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
..Increased serum estradiol (HP:0025134)

Term ID:

25134

Name:

Increased serum estradiol

Synonym:

Increased estradiol level; Increased serum oestradiol

Definition:

An elevation above normal limits of the concentration of estradiol in the circulation.

Comments:

Reference:

HP:0025134

Genes and Diseases:

Child Nodes:

Sister Nodes:

Decreased serum estradiol (HP:0008214)

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:0025134	HP:0025134	Increased serum estradiol	0	AR CL E G H	367	644	ORPHA:99429	Complete androgen insensitivity syndrome	HP:0040281 - Very frequent	125
HP:0025134	HP:0025134	Increased serum estradiol	0	AR CL E G H	367	644	ORPHA:90797	Partial androgen insensitivity syndrome	HP:0040283 - Occasional	125
HP:0025134	HP:0025134	Increased serum estradiol	0	CDKN2A CL E G H	1029	1787	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	289
HP:0025134	HP:0025134	Increased serum estradiol	0	CTNNB1 CL E G H	1499	2514	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	88
HP:0025134	HP:0025134	Increased serum estradiol	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040284 - Very rare	138
HP:0025134	HP:0025134	Increased serum estradiol	0	PRKAR1A CL E G H	5573	9388	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	134
HP:0025134	HP:0025134	Increased serum estradiol	0	TERT CL E G H	7015	11730	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	238
HP:0025134	HP:0025134	Increased serum estradiol	0	TP53 CL E G H	7157	11998	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	911
HP:0025134	HP:0025134	Increased serum estradiol	0	ZNRF3 CL E G H	84133	18126	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent

Genes (8) :AR CDKN2A CTNNB1 POLR3A PRKAR1A TERT TP53 ZNRF3

Diseases (4) :ORPHA:99429 ORPHA:90797 ORPHA:1501 ORPHA:3455

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