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DOID:12583 - velocardiofacial syndrome
Disease Ontology Definition:A chromosomal disease that has_material_basis_in deletion polymorphisms at chromosome location 22q11 and is characterized by variable developmental problems and schizoid features.
Synonyms: 22q11 Deletion Syndrome, Shprintzen syndrome, VCF-Velocardiofacial syndrome, deletion 22q11.2 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)