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
	feb5753a-219e-486f-97c8-11aa4d709bc5.variant calling summary metrics File (Entity type)	A file from Kids First produced from OBI:0002117 as part of the SD Z6MWD3H0 project
	5f53dc03-52f7-438b-8ed8-41c6b6d0b296.peddy.ped check.csv File (Entity type)	A file from Kids First produced from OBI:0002117 as part of the SD Z6MWD3H0 project
	008f0273-c776-4d31-8719-d16efc79bece.single.vqsr.filtered.vep 105.vcf.gz File (Entity type)	A file from Kids First produced from OBI:0002117 as part of the SD Z6MWD3H0 project
	181d2156-aa58-4dd1-838f-8665d9b2c9d1.peddy.peddy.ped File (Entity type)	A file from Kids First produced from OBI:0002117 as part of the SD Z6MWD3H0 project
	b9cbbc12-24fc-46ec-83a6-a386fe1bcf2b.variant calling detail metrics File (Entity type)	A file from Kids First produced from OBI:0002117 as part of the SD Z6MWD3H0 project
	f1995a36-aef3-46ef-8431-f5a0694eb1ab.variant calling summary metrics File (Entity type)	A file from Kids First produced from OBI:0002117 as part of the SD Z6MWD3H0 project
	3b787026-b5dd-45cd-b2cf-a5abb3da152a.single.vqsr.filtered.vep 105.vcf.gz.tbi File (Entity type)	A file from Kids First produced from OBI:0002117 as part of the SD Z6MWD3H0 project
	70a8ce9f-2e96-4aba-ac3a-51b40c616bdc.call.seg File (Entity type)	A file from Kids First produced from OBI:0002117 as part of the SD Z6MWD3H0 project
	8087de1c-cdf9-45dd-ae05-c570eb322f4d.controlfreec.reheader.ratio.log2.png File (Entity type)	A file from Kids First produced from OBI:0002117 as part of the SD Z6MWD3H0 project
	HTP204A 1.fq.gz File (Entity type)	A file from Kids First produced from OBI:0001177 as part of the SD Z6MWD3H0 project