	Label	Description
	Abnormal cardiovascular system morphology Phenotype (Entity type)	Any structural anomaly of the heart and blood vessels.
	Asplenia Phenotype (Entity type)	Absence (aplasia) of the spleen.
	Intestinal malrotation Phenotype (Entity type)	An abnormality of the intestinal rotation and fixation that normally occurs during the development o...
	Right isomerism Phenotype (Entity type)	A type of heterotaxy where some paired structures on opposite sides of the left-right axis of the bo...
	Abnormal spatial orientation of the cardiac segments Phenotype (Entity type)	Abnormality of the spatial relationship of the cardiac segments to other components of the heart.
	Abnormality of the spleen Phenotype (Entity type)	An abnormality of the spleen.
	BS 35XE2NNP Biosample (Entity type)	A biosample from Kids First produced as part of the SD JK4Z4T6V project
	aabcb280-8713-4a77-b9fe-8f8ab260a7b2.multi.vqsr.filtered.denovo.vep 105.vcf.gz File (Entity type)	A file from Kids First produced from OBI:0002117 as part of the SD JK4Z4T6V project
	9b0aad9d-c4b0-4954-a1cb-b9a76c5e1ebd.variant calling detail metrics File (Entity type)	A file from Kids First produced from OBI:0002117 as part of the SD JK4Z4T6V project
	9b0aad9d-c4b0-4954-a1cb-b9a76c5e1ebd.CGP.filtered.deNovo.vep.vcf.gz.tbi File (Entity type)	A file from Kids First produced from OBI:0002117 as part of the SD JK4Z4T6V project

Abnormal cardiovascular system morphology

Any structural anomaly of the heart and blood vessels.

Asplenia

Absence (aplasia) of the spleen.

Intestinal malrotation

An abnormality of the intestinal rotation and fixation that normally occurs during the development o...

Right isomerism

A type of heterotaxy where some paired structures on opposite sides of the left-right axis of the bo...

Abnormal spatial orientation of the cardiac segments

Abnormality of the spatial relationship of the cardiac segments to other components of the heart.

Abnormality of the spleen

An abnormality of the spleen.

BS 35XE2NNP

A biosample from Kids First produced as part of the SD JK4Z4T6V project

aabcb280-8713-4a77-b9fe-8f8ab260a7b2.multi.vqsr.filtered.denovo.vep 105.vcf.gz

A file from Kids First produced from OBI:0002117 as part of the SD JK4Z4T6V project

9b0aad9d-c4b0-4954-a1cb-b9a76c5e1ebd.variant calling detail metrics

A file from Kids First produced from OBI:0002117 as part of the SD JK4Z4T6V project

9b0aad9d-c4b0-4954-a1cb-b9a76c5e1ebd.CGP.filtered.deNovo.vep.vcf.gz.tbi

A file from Kids First produced from OBI:0002117 as part of the SD JK4Z4T6V 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.