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)

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

Parent Node:
Decreased circulating gonadotropin concentration (HP:0030339)

..Starting node
..Decreased circulating follicle stimulating hormone concentration (HP:0030341)

Term ID:

30341

Name:

Decreased circulating follicle stimulating hormone concentration

Synonym:

Decreased circulating follicle stimulating hormone level

Definition:

A reduction of the circulating level of follicle-stimulating hormone (FSH).

Comments:

Reference:

HP:0030341

Genes and Diseases:

Child Nodes:

Sister Nodes:

Decreased circulating luteinizing hormone level (HP:0030344)

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:0030341	HP:0030341	Decreased circulating follicle stimulating hormone concentration	0	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma	HP:0040282 - Frequent	54
HP:0030341	HP:0030341	Decreased circulating follicle stimulating hormone concentration	0	ANOS1 CL E G H	3730	6211	OMIM:308700	Hypogonadotropic hypogonadism 1 with or without anosmia		65
HP:0030341	HP:0030341	Decreased circulating follicle stimulating hormone concentration	0	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma	HP:0040282 - Frequent	184
HP:0030341	HP:0030341	Decreased circulating follicle stimulating hormone concentration	0	CPE CL E G H	1363	2303	OMIM:619326	BDV SYNDROME; BDVS
HP:0030341	HP:0030341	Decreased circulating follicle stimulating hormone concentration	0	DMXL2 CL E G H	23312	2938	ORPHA:453533	Polyendocrine-polyneuropathy syndrome	HP:0040282 - Frequent	3
HP:0030341	HP:0030341	Decreased circulating follicle stimulating hormone concentration	0	FSHB CL E G H	2488	3964	OMIM:229070	Hypogonadotropic hypogonadism 24 without anosmia		23
HP:0030341	HP:0030341	Decreased 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	HP:0040283 - Occasional	21
HP:0030341	HP:0030341	Decreased circulating follicle stimulating hormone concentration	0	KISS1 CL E G H	3814	6341	OMIM:614842	Hypogonadotropic hypogonadism 13 with or without anosmia		3
HP:0030341	HP:0030341	Decreased circulating follicle stimulating hormone concentration	0	LGR4 CL E G H	55366	13299	OMIM:619613	DELAYED PUBERTY, SELF-LIMITED; DPSL		1
HP:0030341	HP:0030341	Decreased 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	HP:0040283 - Occasional	51
HP:0030341	HP:0030341	Decreased 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	HP:0040283 - Occasional	43
HP:0030341	HP:0030341	Decreased circulating follicle stimulating hormone concentration	0	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma	HP:0040282 - Frequent	220
HP:0030341	HP:0030341	Decreased circulating follicle stimulating hormone concentration	0	NHLH2 CL E G H	4808	7818	OMIM:619755	HYPOGONADOTROPIC HYPOGONADISM 27 WITHOUT ANOSMIA; HH27
HP:0030341	HP:0030341	Decreased circulating follicle stimulating hormone concentration	0	OTX2 CL E G H	5015	8522	OMIM:613986	Pituitary hormone deficiency, combined, 6		41
HP:0030341	HP:0030341	Decreased circulating follicle stimulating hormone concentration	0	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma	HP:0040282 - Frequent	9
HP:0030341	HP:0030341	Decreased circulating follicle stimulating hormone concentration	0	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma	HP:0040282 - Frequent	162
HP:0030341	HP:0030341	Decreased 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	HP:0040283 - Occasional	36
HP:0030341	HP:0030341	Decreased 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:0030341	HP:0030341	Decreased 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	HP:0040283 - Occasional	54
HP:0030341	HP:0030341	Decreased circulating follicle stimulating hormone concentration	0	SEMA3A CL E G H	10371	10723	OMIM:614897	Hypogonadotropic hypogonadism 16 with or without anosmia		14
HP:0030341	HP:0030341	Decreased circulating follicle stimulating hormone concentration	0	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma	HP:0040282 - Frequent	87
HP:0030341	HP:0030341	Decreased circulating follicle stimulating hormone concentration	0	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma	HP:0040282 - Frequent	47
HP:0030341	HP:0030341	Decreased circulating follicle stimulating hormone concentration	0	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma	HP:0040282 - Frequent	22
HP:0030341	HP:0030341	Decreased circulating follicle stimulating hormone concentration	0	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma	HP:0040282 - Frequent	124
HP:0030341	HP:0030341	Decreased circulating follicle stimulating hormone concentration	0	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma	HP:0040282 - Frequent	238
HP:0030341	HP:0030341	Decreased circulating follicle stimulating hormone concentration	0	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma	HP:0040282 - Frequent

Genes (26) :AKT1 ANOS1 BAP1 CPE DMXL2 FSHB HESX1 KISS1 LGR4 LHX3 LHX4 NF2 NHLH2 OTX2 PDGFB PIK3CA POU1F1 PRDM13 PROP1 SEMA3A SMARCB1 SMARCE1 SMO SUFU TERT TRAF7

Diseases (12) :ORPHA:2495 OMIM:308700 OMIM:619326 ORPHA:453533 OMIM:229070 ORPHA:226307 OMIM:614842 OMIM:619613 OMIM:619755 OMIM:613986 OMIM:619761 OMIM:614897

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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