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
..Congenital absence of foreskin (HP:0012421)

Term ID:

12421

Name:

Congenital absence of foreskin

Synonym:

Absent foreskin; Aposthia

Definition:

Congenital lack of the skin of prepuce of penis, that is, of the double-layered fold of skin and mucous membrane that covers the glans penis.

Comments:

Reference:

HP:0012421

Genes and Diseases:

Child Nodes:

Sister Nodes:

Paraphimosis (HP:0100588)

Phimosis (HP:0001741)

Ventral shortening of foreskin (HP:0012435)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0012421	HP:0012421	Congenital absence of foreskin	0	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.