Human Phenotype Ontology

Hello! Guest! Please Login or Register! Clinician Mode

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:
Abnormality of male external genitalia (HP:0000032)

Parent Node:
Abnormality of the scrotum (HP:0000045)

..Starting node
..Prominent scrotal raphe (HP:0003246)

Term ID:

3246

Name:

Prominent scrotal raphe

Synonym:

Prominent perineal raphe

Definition:

Increased size of the ridge of tissue that extends along the midline of the scrotum.

Comments:

Reference:

HP:0003246

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal scrotal rugation (HP:0012856)

Absent scrotum (HP:0008707)

Accessory scrotum (HP:0030274)

Bifid scrotum (HP:0000048)

Ectopic scrotum (HP:0030275)

Neoplasm of the scrotum (HP:0100849)

obsolete Small scrotum (HP:0030276)

Penoscrotal transposition (HP:0100600)

Scrotal hyperpigmentation (HP:0012855)

Scrotal pain (HP:0030155)

Shawl scrotum (HP:0000049)

Small scrotum (HP:0000046)

Vaginal hematocele (HP:0100674)

Vaginal hydrocele (HP:0100673)

Vaginal lymphocele (HP:0100676)

Vaginal pyocele (HP:0100675)

Varicocele (HP:0012871)

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:0003246	HP:0003246	Prominent scrotal raphe	0	FGFR2 CL E G H	2263	3689	OMIM:123790	Beare-Stevenson cutis gyrata syndrome	.	175
HP:0003246	HP:0003246	Prominent scrotal raphe	0	FGFR2 CL E G H	2263	3689	ORPHA:1555	Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome	HP:0040282 - Frequent	175

Genes (1) :FGFR2

Diseases (2) :OMIM:123790 ORPHA:1555

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