Down syndrome (Disease)

Synonyms:Complete trisomy 21 syndrome, Down's syndrome, Down's syndrome - trisomy 21, Downs syndrome, G Trisomy, trisomy 21 syndrome

Id:DOID:14250

Description:A chromosomal disease that is characterized by flat-looking facial features and weak muscle tone (hypotonia) in infancy and is caused by trisomy of all or a critical portion of chromosome 21 and is associated with intellectual disability.

Results found

Linked to

	Label	Description
	SU002286 Subject (Entity type)	A subject from Metabolomics produced as part of the PR001403 project
	SU001309 Subject (Entity type)	A subject from Metabolomics produced as part of the PR000830 project
	SU001310 Subject (Entity type)	A subject from Metabolomics produced as part of the PR000830 project
	SU001311 Subject (Entity type)	A subject from Metabolomics produced as part of the PR000830 project
	SU001308 Subject (Entity type)	A subject from Metabolomics produced as part of the PR000830 project
	SU002367 Subject (Entity type)	A subject from Metabolomics produced as part of the PR001461 project
	DISEASE DOID 14250 Collection (Entity type)	DiseasePage Collection: Down syndrome (DOID:14250, FILE=tcrd_disease_DOID_014250.json)

SU002286

Subject (Entity type)

A subject from Metabolomics produced as part of the PR001403 project

SU001309

Subject (Entity type)

A subject from Metabolomics produced as part of the PR000830 project

SU001310

Subject (Entity type)

A subject from Metabolomics produced as part of the PR000830 project

SU001311

Subject (Entity type)

A subject from Metabolomics produced as part of the PR000830 project

SU001308

Subject (Entity type)

A subject from Metabolomics produced as part of the PR000830 project

SU002367

Subject (Entity type)

A subject from Metabolomics produced as part of the PR001461 project

DISEASE DOID 14250

Collection (Entity type)

DiseasePage Collection: Down syndrome (DOID:14250, FILE=tcrd_disease_DOID_014250.json)

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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 2025

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