DataKnowledgeCloudtrainingcoordination

PT PN00FG3M (Subject)

Taxonomy Id:

Homo sapiens

Taxonomy (Entity type)

Sex:

Female

Subject Sex (Entity type)

Role Id:

single organism

Subject Role (Entity type)

Race:

Asian

Subject Race (Entity type)

Project:

SD 54G4WG4R

Project (Entity type)

Granularity:

single organism

Subject Granularity (Entity type)

Ethnicity:

not Hispanic or Latino

Subject Ethnicity (Entity type)

Disease:

CHARGE syndrome

Disease (Entity type)

Dcc Asset:

2026Q3 C2M2 datapackage.zip

Processed File (Entity type)

Dcc:

Kids First

DCC (Entity type)

Creation Time:2022-12-06 14:15:06.181820

Results found

Linked to

	Label	Description
	Conductive hearing impairment Phenotype (Entity type)	An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory...
	BS 2ZZ1P092 Biosample (Entity type)	A biosample produced as part of the SD 54G4WG4R project
	ab1af719-20f0-459f-b9de-0c388351bc0d.variant calling detail metrics File (Entity type)	A file from Kids First produced from OBI:0002117 as part of the SD 54G4WG4R project
	ab1af719-20f0-459f-b9de-0c388351bc0d.g.vcf.gz File (Entity type)	A file from Kids First produced from OBI:0002117 as part of the SD 54G4WG4R project
	ab1af719-20f0-459f-b9de-0c388351bc0d.g.vcf.gz.tbi File (Entity type)	A file from Kids First produced from OBI:0002117 as part of the SD 54G4WG4R project
	UM509 D1.cram File (Entity type)	A file from Kids First produced from OBI:0002117 as part of the SD 54G4WG4R project
	ab1af719-20f0-459f-b9de-0c388351bc0d.variant calling summary metrics File (Entity type)	A file from Kids First produced from OBI:0002117 as part of the SD 54G4WG4R project
	UM509 D1.cram.crai File (Entity type)	A file from Kids First produced from OBI:0002117 as part of the SD 54G4WG4R project
	Migraine Phenotype (Entity type)	Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associ...
	Abnormality of connective tissue Phenotype (Entity type)	Any abnormality of the soft tissues, including both connective tissue (tendons, ligaments, fascia, f...

Phenotype

Conductive hearing impairment

Phenotype (Entity type)

An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory...

Biosample

BS 2ZZ1P092

Biosample (Entity type)

A biosample produced as part of the SD 54G4WG4R project

File

ab1af719-20f0-459f-b9de-0c388351bc0d.variant calling detail metrics

File (Entity type)

A file from Kids First produced from OBI:0002117 as part of the SD 54G4WG4R project

File

ab1af719-20f0-459f-b9de-0c388351bc0d.g.vcf.gz

File (Entity type)

A file from Kids First produced from OBI:0002117 as part of the SD 54G4WG4R project

File

ab1af719-20f0-459f-b9de-0c388351bc0d.g.vcf.gz.tbi

File (Entity type)

A file from Kids First produced from OBI:0002117 as part of the SD 54G4WG4R project

File

UM509 D1.cram

File (Entity type)

A file from Kids First produced from OBI:0002117 as part of the SD 54G4WG4R project

File

ab1af719-20f0-459f-b9de-0c388351bc0d.variant calling summary metrics

File (Entity type)

A file from Kids First produced from OBI:0002117 as part of the SD 54G4WG4R project

File

UM509 D1.cram.crai

File (Entity type)

A file from Kids First produced from OBI:0002117 as part of the SD 54G4WG4R project

Phenotype

Migraine

Phenotype (Entity type)

Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associ...

Phenotype

Abnormality of connective tissue

Phenotype (Entity type)

Any abnormality of the soft tissues, including both connective tissue (tendons, ligaments, fascia, f...

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Community

Resources

@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.

Consortium

Community

Resources

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.