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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, deletion 22q11.2 syndrome, Shprintzen syndrome, VCF-Velocardiofacial syndrome
Echinobase Genes
:
tbx1
| MIM:192430 - velocardiofacial syndrome |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
chromosomal deletion syndrome (is_a)