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 male internal genitalia morphology (HP:0000022)

Parent Node:
Abnormal prostate morphology (HP:0008775)

..Starting node
..Hypoplasia of the prostate (HP:0008687)

Term ID:

8687

Name:

Hypoplasia of the prostate

Synonym:

Hypoplastic prostate; Underdeveloped prostate

Definition:

Comments:

Reference:

HP:0008687

Genes and Diseases:

Child Nodes:

Sister Nodes:

Benign prostatic hyperplasia (HP:0008711)

Prominent prostate median bar (HP:0008742)

Prostate neoplasm (HP:0100787)

Prostatitis (HP:0000024)

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:0008687	HP:0008687	Hypoplasia of the prostate	0	PHF6 CL E G H	84295	18145	OMIM:301900	Borjeson-Forssman-Lehmann syndrome	.	29

Genes (1) :PHF6

Diseases (1) :OMIM:301900

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