Hypospadias (Phenotype)

Phenotype:

SU001380

Synonyms:Hypospadia

Id:HP:0000047

Description:Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum.

Results found

Linked to

	Label	Description
	OR2J2 Gene (Entity type)	olfactory receptor family 2 subfamily J member 2 [Source:HGNC Symbol;Acc:HGNC:8260]
	NELL1 Gene (Entity type)	neural EGFL like 1
	CCDC144A Gene (Entity type)	coiled-coil domain containing 144A
	LSS Gene (Entity type)	lanosterol synthase [Source:HGNC Symbol;Acc:HGNC:6708]
	EHMT1 Gene (Entity type)	euchromatic histone lysine methyltransferase 1
	SIAH1 Gene (Entity type)	siah E3 ubiquitin protein ligase 1
	CNTN6 Gene (Entity type)	contactin 6
	GYG2 Gene (Entity type)	glycogenin 2
	COL11A2 Gene (Entity type)	collagen type XI alpha 2 chain
	FOXF1 Gene (Entity type)	forkhead box F1

OR2J2

Gene (Entity type)

olfactory receptor family 2 subfamily J member 2 [Source:HGNC Symbol;Acc:HGNC:8260]

NELL1

Gene (Entity type)

neural EGFL like 1

CCDC144A

Gene (Entity type)

coiled-coil domain containing 144A

LSS

Gene (Entity type)

lanosterol synthase [Source:HGNC Symbol;Acc:HGNC:6708]

EHMT1

Gene (Entity type)

euchromatic histone lysine methyltransferase 1

SIAH1

Gene (Entity type)

siah E3 ubiquitin protein ligase 1

CNTN6

Gene (Entity type)

contactin 6

GYG2

Gene (Entity type)

glycogenin 2

COL11A2

Gene (Entity type)

collagen type XI alpha 2 chain

FOXF1

Gene (Entity type)

forkhead box F1

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Consortium

Community

Resources

CFDE Workbench

The CFDE Workbench is actively being developed and maintained by the CFDE Data Resource Center (DRC).The DRC is funded by OT2OD036435 from the Common Fund at the National Institutes of Health.

@CFDE Workbench 2026

This repository is under review for potential modification in compliance with Administration directives.