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)

Grandparent Node:
Puberty and gonadal disorders (HP:0008373)

Parent Node:
Abnormal circulating estrogen level (HP:0025132)

..Starting node
..Abnormal serum estrone (HP:0025138)

Term ID:

25138

Name:

Abnormal serum estrone

Synonym:

Definition:

A deviation from the normal concentration of circulating estrone.

Comments:

Reference:

HP:0025138

Genes and Diseases:

Child Nodes:

........

Increased serum estrone (HP:0025139)

........

Decreased serum estrone (HP:0025140)

Sister Nodes:

Abnormal serum estradiol (HP:0025133)

Abnormal serum estriol (HP:0025135)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0025138	HP:0025138	Abnormal serum estrone	0	CL E G H
HP:0025138	HP:0025140	Decreased serum estrone	1	CL E G H
HP:0025138	HP:0025139	Increased serum estrone	1	CL E G H

Genes (0) :

Diseases (0) :

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