Goldenhar syndrome (Disease)

Synonyms:Facio-auriculo-vertebral spectrum, First AND second branchial arch syndrome, First arch syndrome, HEMIFACIAL MICROSOMIA, OAV (oculoauriculovertebral) dysplasia, Otomandibular dysostosis

Id:DOID:2907

Description:A syndrome that is characterized by incomplete development of the ear, nose, soft palate, lip, and mandible. It is associated with anomalous development of the first branchial arch and second branchial arch.

Results found

Linked to

	Label	Description
	132c7d2c-ff35-4b89-bcd4-f3ec2f05cb1e.g.vcf.gz File (Entity type)	A file from Kids First produced from OBI:0002117 as part of the SD B8X3C1MX project
	d72310a3-1641-49d5-acb9-c99d03d89237.g.vcf.gz.tbi File (Entity type)	A file from Kids First produced from OBI:0002117 as part of the SD B8X3C1MX project
	68624d17-d78d-4c86-be69-37af62c33a9c.ped check.csv File (Entity type)	A file from Kids First produced from OBI:0002117 as part of the SD B8X3C1MX project
	PT V82M680Z Subject (Entity type)	A subject from Kids First produced as part of the SD B8X3C1MX project
	ca6047e3-fc3d-49dd-9424-9352c77c9a24.peddy.ped File (Entity type)	A file from Kids First produced from OBI:0002117 as part of the SD B8X3C1MX project
	BS 0XWVA475 Biosample (Entity type)	A biosample from Kids First produced as part of the SD B8X3C1MX project
	651395d8-97d9-4300-8178-4fcffe1a8c20.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 B8X3C1MX project
	300c9099-857f-4550-a53f-72458c8a58d2.g.vcf.gz File (Entity type)	A file from Kids First produced from OBI:0002117 as part of the SD B8X3C1MX project
	132c7d2c-ff35-4b89-bcd4-f3ec2f05cb1e.variant calling detail metrics File (Entity type)	A file from Kids First produced from OBI:0002117 as part of the SD B8X3C1MX project
	e1162bcb-23ac-4cae-9753-5fe3da2d7ac1.g.vcf.gz.tbi File (Entity type)	A file from Kids First produced from OBI:0002117 as part of the SD B8X3C1MX project