Hypospadias (Phenotype)

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
	FABP4 Gene (Entity type)	ENSG00000170323 - fatty acid binding protein 4
	SOX9 Gene (Entity type)	ENSG00000125398 - SRY-box transcription factor 9
	GABRP Gene (Entity type)	ENSG00000094755 - gamma-aminobutyric acid type A receptor subunit pi
	DSP Gene (Entity type)	ENSG00000096696 - desmoplakin
	WT1 Gene (Entity type)	ENSG00000184937 - WT1 transcription factor
	FASN Gene (Entity type)	ENSG00000169710 - fatty acid synthase
	DDX3Y Gene (Entity type)	ENSG00000067048 - DEAD-box helicase 3 Y-linked
	SMC1A Gene (Entity type)	ENSG00000072501 - structural maintenance of chromosomes 1A
	CTSH Gene (Entity type)	ENSG00000103811 - cathepsin H
	RCAN1 Gene (Entity type)	ENSG00000159200 - regulator of calcineurin 1

FABP4

Gene (Entity type)

ENSG00000170323 - fatty acid binding protein 4

SOX9

Gene (Entity type)

ENSG00000125398 - SRY-box transcription factor 9

GABRP

Gene (Entity type)

ENSG00000094755 - gamma-aminobutyric acid type A receptor subunit pi

DSP

Gene (Entity type)

ENSG00000096696 - desmoplakin

WT1

Gene (Entity type)

ENSG00000184937 - WT1 transcription factor

FASN

Gene (Entity type)

ENSG00000169710 - fatty acid synthase

DDX3Y

Gene (Entity type)

ENSG00000067048 - DEAD-box helicase 3 Y-linked

SMC1A

Gene (Entity type)

ENSG00000072501 - structural maintenance of chromosomes 1A

CTSH

Gene (Entity type)

ENSG00000103811 - cathepsin H

RCAN1

Gene (Entity type)

ENSG00000159200 - regulator of calcineurin 1

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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.