	Label	Description
	Ventricular septal defect Phenotype (Entity type)	A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the ...
	Cryptorchidism Phenotype (Entity type)	Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure o...
	Talipes equinovarus Phenotype (Entity type)	Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adducti...
	Myelomeningocele Phenotype (Entity type)	Protrusion of the meninges and portions of the spinal cord through a defect of the vertebral column.
	Pulmonic stenosis Phenotype (Entity type)	A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular s...
	Double outlet right ventricle Phenotype (Entity type)	Double outlet right ventricle (DORV) is a type of ventriculoarterial connection in which both great ...
	Spina bifida Phenotype (Entity type)	Incomplete closure of the embryonic neural tube, whereby some vertebral arches remain unfused and op...
	BS K6870P46 Biosample (Entity type)	A biosample produced as part of the SD JWS3V24D project
	21eb877c-e88c-45bd-a31b-a75d545c77e9.variant calling summary metrics File (Entity type)	A file from Kids First produced from OBI:0002117 as part of the SD JWS3V24D project
	937474b4-eb47-4d09-90f0-2381a94a6b31.g.vcf.gz.tbi File (Entity type)	A file from Kids First produced from OBI:0002117 as part of the SD JWS3V24D project

Ventricular septal defect

A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the ...

Cryptorchidism

Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure o...

Talipes equinovarus

Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adducti...

Myelomeningocele

Protrusion of the meninges and portions of the spinal cord through a defect of the vertebral column.

Pulmonic stenosis

A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular s...

Double outlet right ventricle

Double outlet right ventricle (DORV) is a type of ventriculoarterial connection in which both great ...

Spina bifida

Incomplete closure of the embryonic neural tube, whereby some vertebral arches remain unfused and op...

BS K6870P46

A biosample produced as part of the SD JWS3V24D project

21eb877c-e88c-45bd-a31b-a75d545c77e9.variant calling summary metrics

A file from Kids First produced from OBI:0002117 as part of the SD JWS3V24D project

937474b4-eb47-4d09-90f0-2381a94a6b31.g.vcf.gz.tbi

A file from Kids First produced from OBI:0002117 as part of the SD JWS3V24D project

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@CFDE Workbench 2026

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.

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.