Click here to close Hello! We notice that you are using Internet Explorer, which is not supported by Xenbase and may cause the site to display incorrectly. We suggest using a current version of Chrome, FireFox, or Safari.
Summary Literature (0)
DOID:12583 - velocardiofacial syndrome

Disease Ontology Definition:A chromosomal deletion disease that has_material_basis_in da 1.5- to 3.0-Mb hemizygous deletion of chromosome 22q11.2 and that is characterized by variable developmental problems and schizoid features. Haploinsufficiency of the TBX1 gene in particular is responsible for most of the physical malformations.

Synonyms: 22q11 Deletion Syndrome, Shprintzen syndrome, VCF-Velocardiofacial syndrome, deletion 22q11.2 syndrome

Xenbase Genes : tbx1, dgcr2, dgcr8, ess2, dgcr6

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0008644 - velocardiofacial syndrome


Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): chromosomal deletion syndrome (is_a)