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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

OMIM:
OMIM:192430 - VELOCARDIOFACIAL SYNDROME; VCFS

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)