DataKnowledgeCloudtrainingcoordination

PT AK9H0MYV (Subject)

Taxonomy Id:

Homo sapiens

Taxonomy (Entity type)

Sex:

Male

Subject Sex (Entity type)

Role Id:

single organism

Subject Role (Entity type)

Project:

SD Q2F7XA29

Project (Entity type)

Granularity:

single organism

Subject Granularity (Entity type)

Ethnicity:

not Hispanic or Latino

Subject Ethnicity (Entity type)

Disease:

central nervous system disease

Disease (Entity type)

Dcc Asset:

2026Q3 C2M2 datapackage.zip

Processed File (Entity type)

Dcc:

Kids First

DCC (Entity type)

Creation Time:2020-12-14 23:03:43.563743

Results found

Linked to

	Label	Description
	Microcephaly Phenotype (Entity type)	Head circumference below 2 standard deviations below the mean for age and gender.
	Nystagmus Phenotype (Entity type)	Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate...
	BS DQJEWN8W Biosample (Entity type)	A biosample from Kids First produced as part of the SD Q2F7XA29 project
	665b5700-ded4-4b1e-8963-8217edea1c35.variant calling summary metrics File (Entity type)	A file from Kids First produced from OBI:0002117 as part of the SD Q2F7XA29 project
	665b5700-ded4-4b1e-8963-8217edea1c35.peddy.html File (Entity type)	A file from Kids First produced from OBI:0002117 as part of the SD Q2F7XA29 project
	665b5700-ded4-4b1e-8963-8217edea1c35.peddy.vs.html File (Entity type)	A file from Kids First produced from OBI:0002117 as part of the SD Q2F7XA29 project
	665b5700-ded4-4b1e-8963-8217edea1c35.peddy.het check.csv File (Entity type)	A file from Kids First produced from OBI:0002117 as part of the SD Q2F7XA29 project
	665b5700-ded4-4b1e-8963-8217edea1c35 stats.txt File (Entity type)	A file from Kids First produced from OBI:0002117 as part of the SD Q2F7XA29 project
	665b5700-ded4-4b1e-8963-8217edea1c35.peddy.sex check.csv File (Entity type)	A file from Kids First produced from OBI:0002117 as part of the SD Q2F7XA29 project
	97640152-31ba-4479-8c3a-61bdc29a8680.multi.vqsr.filtered.denovo.vep 105.vcf.gz.tbi File (Entity type)	A file from Kids First produced from OBI:0002117 as part of the SD Q2F7XA29 project

Phenotype

Microcephaly

Phenotype (Entity type)

Head circumference below 2 standard deviations below the mean for age and gender.

Phenotype

Nystagmus

Phenotype (Entity type)

Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate...

Biosample

BS DQJEWN8W

Biosample (Entity type)

A biosample from Kids First produced as part of the SD Q2F7XA29 project

File

665b5700-ded4-4b1e-8963-8217edea1c35.variant calling summary metrics

File (Entity type)

A file from Kids First produced from OBI:0002117 as part of the SD Q2F7XA29 project

File

665b5700-ded4-4b1e-8963-8217edea1c35.peddy.html

File (Entity type)

A file from Kids First produced from OBI:0002117 as part of the SD Q2F7XA29 project

File

665b5700-ded4-4b1e-8963-8217edea1c35.peddy.vs.html

File (Entity type)

A file from Kids First produced from OBI:0002117 as part of the SD Q2F7XA29 project

File

665b5700-ded4-4b1e-8963-8217edea1c35.peddy.het check.csv

File (Entity type)

A file from Kids First produced from OBI:0002117 as part of the SD Q2F7XA29 project

File

665b5700-ded4-4b1e-8963-8217edea1c35 stats.txt

File (Entity type)

A file from Kids First produced from OBI:0002117 as part of the SD Q2F7XA29 project

File

665b5700-ded4-4b1e-8963-8217edea1c35.peddy.sex check.csv

File (Entity type)

A file from Kids First produced from OBI:0002117 as part of the SD Q2F7XA29 project

File

97640152-31ba-4479-8c3a-61bdc29a8680.multi.vqsr.filtered.denovo.vep 105.vcf.gz.tbi

File (Entity type)

A file from Kids First produced from OBI:0002117 as part of the SD Q2F7XA29 project

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Consortium

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.