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 penis morphology (HP:0000036)

Parent Node:
Abnormal preputium morphology (HP:0100587)

..Starting node
..Ventral shortening of foreskin (HP:0012435)

Term ID:

12435

Name:

Ventral shortening of foreskin

Synonym:

Definition:

Reduction in length of the ventral (lower) skin of prepuce of penis.

Comments:

Reference:

HP:0012435

Genes and Diseases:

Child Nodes:

Sister Nodes:

Congenital absence of foreskin (HP:0012421)

Paraphimosis (HP:0100588)

Phimosis (HP:0001741)

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:0012435	HP:0012435	Ventral shortening of foreskin	0	AR CL E G H	367	644	ORPHA:95706	Non-syndromic posterior hypospadias	HP:0040282 - Frequent	125
HP:0012435	HP:0012435	Ventral shortening of foreskin	0	MAMLD1 CL E G H	10046	2568	ORPHA:95706	Non-syndromic posterior hypospadias	HP:0040282 - Frequent	5

Genes (2) :AR MAMLD1

Diseases (1) :ORPHA:95706

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