Cornelia de Lange syndrome (Disease)

Synonyms:Brachmann de Lange syndrome, De Lange syndrome

Id:DOID:11725

Description:A syndrome that is characterized by slow growth before and after birth, intellectual disability that is usually severe to profound, skeletal abnormalities involving the arms and hands, and distinctive facial features.

Results found

Linked to

	Label	Description
	part-00069-76371783-3cc5-43c5-8bf1-3f2160b4ab16.c000.snappy.parquet File (Entity type)	A file from Kids First produced from OBI:0002117 as part of the SD 2CEKQ05V project
	941c2606-6ded-460a-8a3e-fc9487dbfd07.kallisto.abundance.tsv.gz File (Entity type)	A file from Kids First produced from OBI:0001177 as part of the SD 2CEKQ05V project
	01db8cb7-557a-4d82-ad3e-49e0da319801.Aligned.out.sorted.bam.metrics.tsv File (Entity type)	A file from Kids First produced from OBI:0001177 as part of the SD 2CEKQ05V project
	f9e99b7a-03ec-4e49-bf7c-219d00db9b91.rsem.isoforms.results.gz File (Entity type)	A file from Kids First produced from OBI:0001177 as part of the SD 2CEKQ05V project
	4104e144-a637-4fcf-aa8f-724663921b90.filtered.SE.MATS.JC.txt File (Entity type)	A file from Kids First produced from OBI:0001177 as part of the SD 2CEKQ05V project
	PT GJX9AWM0 Subject (Entity type)	A subject from Kids First produced as part of the SD 2CEKQ05V project
	BS AM3KNNDZ Biosample (Entity type)	A biosample from Kids First produced as part of the SD 2CEKQ05V project
	83d2a2e2-4dd0-408f-9fc1-480d061bf269.Log.final.out File (Entity type)	A file from Kids First produced from OBI:0001177 as part of the SD 2CEKQ05V project
	33826465-9a36-4194-b075-f001e5ac6ade.variant calling summary metrics File (Entity type)	A file from Kids First produced from OBI:0002117 as part of the SD 2CEKQ05V project
	BS JCD8FESF Biosample (Entity type)	A biosample from Kids First produced as part of the SD 2CEKQ05V project

part-00069-76371783-3cc5-43c5-8bf1-3f2160b4ab16.c000.snappy.parquet

File (Entity type)

A file from Kids First produced from OBI:0002117 as part of the SD 2CEKQ05V project

941c2606-6ded-460a-8a3e-fc9487dbfd07.kallisto.abundance.tsv.gz

File (Entity type)

A file from Kids First produced from OBI:0001177 as part of the SD 2CEKQ05V project

01db8cb7-557a-4d82-ad3e-49e0da319801.Aligned.out.sorted.bam.metrics.tsv

File (Entity type)

A file from Kids First produced from OBI:0001177 as part of the SD 2CEKQ05V project

f9e99b7a-03ec-4e49-bf7c-219d00db9b91.rsem.isoforms.results.gz

File (Entity type)

A file from Kids First produced from OBI:0001177 as part of the SD 2CEKQ05V project

4104e144-a637-4fcf-aa8f-724663921b90.filtered.SE.MATS.JC.txt

File (Entity type)

A file from Kids First produced from OBI:0001177 as part of the SD 2CEKQ05V project

PT GJX9AWM0

Subject (Entity type)

A subject from Kids First produced as part of the SD 2CEKQ05V project

BS AM3KNNDZ

Biosample (Entity type)

A biosample from Kids First produced as part of the SD 2CEKQ05V project

83d2a2e2-4dd0-408f-9fc1-480d061bf269.Log.final.out

File (Entity type)

A file from Kids First produced from OBI:0001177 as part of the SD 2CEKQ05V project

33826465-9a36-4194-b075-f001e5ac6ade.variant calling summary metrics

File (Entity type)

A file from Kids First produced from OBI:0002117 as part of the SD 2CEKQ05V project

BS JCD8FESF

Biosample (Entity type)

A biosample from Kids First produced as part of the SD 2CEKQ05V 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.

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.