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 estrogen level (HP:0025132)

Parent Node:
Abnormal serum estradiol (HP:0025133)

..Starting node
..Decreased serum estradiol (HP:0008214)

Term ID:

8214

Name:

Decreased serum estradiol

Synonym:

Decreased serum estradiol

Definition:

A reduction below normal concentration of estradiol in the circulation.

Comments:

Reference:

HP:0008214

Genes and Diseases:

Child Nodes:

Sister Nodes:

Increased serum estradiol (HP:0025134)

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:0008214	HP:0008214	Decreased serum estradiol	0	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma	HP:0040282 - Frequent	54
HP:0008214	HP:0008214	Decreased serum estradiol	0	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma	HP:0040282 - Frequent	184
HP:0008214	HP:0008214	Decreased serum estradiol	0	BMP15 CL E G H	9210	1068	ORPHA:243	46,XX gonadal dysgenesis	HP:0040281 - Very frequent	16
HP:0008214	HP:0008214	Decreased serum estradiol	0	BNC1 CL E G H	646	1081	ORPHA:243	46,XX gonadal dysgenesis	HP:0040281 - Very frequent
HP:0008214	HP:0008214	Decreased serum estradiol	0	BNC1 CL E G H	646	1081	OMIM:618723	PREMATURE OVARIAN FAILURE 16; POF16
HP:0008214	HP:0008214	Decreased serum estradiol	0	CTDP1 CL E G H	9150	2498	OMIM:604168	Congenital cataracts, facial dysmorphism, and neuropathy	.	17
HP:0008214	HP:0008214	Decreased serum estradiol	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:0008214	HP:0008214	Decreased serum estradiol	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:0008214	HP:0008214	Decreased serum estradiol	0	DCAF17 CL E G H	80067	25784	ORPHA:3464	Woodhouse-Sakati syndrome	HP:0040281 - Very frequent	87
HP:0008214	HP:0008214	Decreased serum estradiol	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:0008214	HP:0008214	Decreased serum estradiol	0	DHX37 CL E G H	57647	17210	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	2
HP:0008214	HP:0008214	Decreased serum estradiol	0	DMRT3 CL E G H	58524	13909	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	1
HP:0008214	HP:0008214	Decreased serum estradiol	0	FOXL2 CL E G H	668	1092	ORPHA:572333	Blepharophimosis-ptosis-epicanthus inversus syndrome plus	HP:0040283 - Occasional	92
HP:0008214	HP:0008214	Decreased serum estradiol	0	FSHB CL E G H	2488	3964	ORPHA:52901	Isolated follicle stimulating hormone deficiency	HP:0040281 - Very frequent	23
HP:0008214	HP:0008214	Decreased serum estradiol	0	FSHR CL E G H	2492	3969	ORPHA:243	46,XX gonadal dysgenesis	HP:0040281 - Very frequent	50
HP:0008214	HP:0008214	Decreased serum estradiol	0	GATA4 CL E G H	2626	4173	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	87
HP:0008214	HP:0008214	Decreased serum estradiol	0	GNRH1 CL E G H	2796	4419	OMIM:614841	Hypogonadotropic hypogonadism 12 with or without anosmia	.	15
HP:0008214	HP:0008214	Decreased serum estradiol	0	KISS1 CL E G H	3814	6341	OMIM:614842	Hypogonadotropic hypogonadism 13 with or without anosmia		3
HP:0008214	HP:0008214	Decreased serum estradiol	0	LARS2 CL E G H	23395	17095	OMIM:615300	Perrault syndrome 4		54
HP:0008214	HP:0008214	Decreased serum estradiol	0	LEP CL E G H	3952	6553	ORPHA:66628	Obesity due to congenital leptin deficiency	HP:0040281 - Very frequent	47
HP:0008214	HP:0008214	Decreased serum estradiol	0	LEPR CL E G H	3953	6554	ORPHA:179494	Obesity due to leptin receptor gene deficiency	HP:0040281 - Very frequent	46
HP:0008214	HP:0008214	Decreased serum estradiol	0	MAP3K1 CL E G H	4214	6848	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	13
HP:0008214	HP:0008214	Decreased serum estradiol	0	MCM9 CL E G H	254394	21484	OMIM:616185	Ovarian dysgenesis 4		4
HP:0008214	HP:0008214	Decreased serum estradiol	0	MRPS22 CL E G H	56945	14508	ORPHA:243	46,XX gonadal dysgenesis	HP:0040281 - Very frequent	25
HP:0008214	HP:0008214	Decreased serum estradiol	0	NDNF CL E G H	79625	26256	OMIM:618841	HYPOGONADOTROPIC HYPOGONADISM 25 WITH ANOSMIA; HH25
HP:0008214	HP:0008214	Decreased serum estradiol	0	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma	HP:0040282 - Frequent	220
HP:0008214	HP:0008214	Decreased serum estradiol	0	NR0B1 CL E G H	190	7960	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	48
HP:0008214	HP:0008214	Decreased serum estradiol	0	NR5A1 CL E G H	2516	7983	ORPHA:243	46,XX gonadal dysgenesis	HP:0040281 - Very frequent	38
HP:0008214	HP:0008214	Decreased serum estradiol	0	NR5A1 CL E G H	2516	7983	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	38
HP:0008214	HP:0008214	Decreased serum estradiol	0	NUP107 CL E G H	57122	29914	ORPHA:243	46,XX gonadal dysgenesis	HP:0040281 - Very frequent	5
HP:0008214	HP:0008214	Decreased serum estradiol	0	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma	HP:0040282 - Frequent	9
HP:0008214	HP:0008214	Decreased serum estradiol	0	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma	HP:0040282 - Frequent	162
HP:0008214	HP:0008214	Decreased serum estradiol	0	POLR3H CL E G H	171568	30349	ORPHA:243	46,XX gonadal dysgenesis	HP:0040281 - Very frequent
HP:0008214	HP:0008214	Decreased serum estradiol	0	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	HP:0040282 - Frequent	76
HP:0008214	HP:0008214	Decreased serum estradiol	0	PSMC3IP CL E G H	29893	17928	ORPHA:243	46,XX gonadal dysgenesis	HP:0040281 - Very frequent	2
HP:0008214	HP:0008214	Decreased serum estradiol	0	SEMA3A CL E G H	10371	10723	OMIM:614897	Hypogonadotropic hypogonadism 16 with or without anosmia		14
HP:0008214	HP:0008214	Decreased serum estradiol	0	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma	HP:0040282 - Frequent	87
HP:0008214	HP:0008214	Decreased serum estradiol	0	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma	HP:0040282 - Frequent	47
HP:0008214	HP:0008214	Decreased serum estradiol	0	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma	HP:0040282 - Frequent	22
HP:0008214	HP:0008214	Decreased serum estradiol	0	SOX9 CL E G H	6662	11204	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	109
HP:0008214	HP:0008214	Decreased serum estradiol	0	SPIDR CL E G H	23514	28971	ORPHA:243	46,XX gonadal dysgenesis	HP:0040281 - Very frequent	2
HP:0008214	HP:0008214	Decreased serum estradiol	0	SPIDR CL E G H	23514	28971	OMIM:619665	OVARIAN DYSGENESIS 9; ODG9		2
HP:0008214	HP:0008214	Decreased serum estradiol	0	SRY CL E G H	6736	11311	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	23
HP:0008214	HP:0008214	Decreased serum estradiol	0	STAG3 CL E G H	10734	11356	OMIM:615723	Premature ovarian failure 8		4
HP:0008214	HP:0008214	Decreased serum estradiol	0	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma	HP:0040282 - Frequent	124
HP:0008214	HP:0008214	Decreased serum estradiol	0	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma	HP:0040282 - Frequent	238
HP:0008214	HP:0008214	Decreased serum estradiol	0	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma	HP:0040282 - Frequent
HP:0008214	HP:0008214	Decreased serum estradiol	0	VAMP7 CL E G H	6845	11486	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	2
HP:0008214	HP:0008214	Decreased serum estradiol	0	WT1 CL E G H	7490	12796	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	177
HP:0008214	HP:0008214	Decreased serum estradiol	0	WT1 CL E G H	7490	12796	ORPHA:347	Frasier syndrome	HP:0040281 - Very frequent	177
HP:0008214	HP:0008214	Decreased serum estradiol	0	WWOX CL E G H	51741	12799	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	149
HP:0008214	HP:0008214	Decreased serum estradiol	0	XRCC2 CL E G H	7516	12829	OMIM:619146	PREMATURE OVARIAN FAILURE 17; POF17		125
HP:0008214	HP:0008214	Decreased serum estradiol	0	ZFPM2 CL E G H	23414	16700	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent	31
HP:0008214	HP:0008214	Decreased serum estradiol	0	ZSWIM7 CL E G H	125150	26993	ORPHA:243	46,XX gonadal dysgenesis	HP:0040281 - Very frequent
HP:0008214	HP:0008214	Decreased serum estradiol	0	ZSWIM7 CL E G H	125150	26993	OMIM:619834	OVARIAN DYSGENESIS 10; ODG10

Genes (50) :AKT1 BAP1 BMP15 BNC1 CTDP1 CYB5A CYP17A1 DCAF17 DHH DHX37 DMRT3 FOXL2 FSHB FSHR GATA4 GNRH1 KISS1 LARS2 LEP LEPR MAP3K1 MCM9 MRPS22 NDNF NF2 NR0B1 NR5A1 NUP107 PDGFB PIK3CA POLR3H POR PSMC3IP SEMA3A SMARCB1 SMARCE1 SMO SOX9 SPIDR SRY STAG3 SUFU TERT TRAF7 VAMP7 WT1 WWOX XRCC2 ZFPM2 ZSWIM7

Diseases (24) :ORPHA:2495 ORPHA:243 OMIM:618723 OMIM:604168 ORPHA:90796 ORPHA:3464 ORPHA:168563 ORPHA:251510 ORPHA:572333 ORPHA:52901 OMIM:614841 OMIM:614842 OMIM:615300 ORPHA:66628 ORPHA:179494 OMIM:616185 OMIM:618841 ORPHA:95699 OMIM:614897 OMIM:619665 OMIM:615723 ORPHA:347 OMIM:619146 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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