OBO ID: DOID:12583
Term Name: velocardiofacial syndrome Search Ontology:
Synonyms:
  • 22q11 Deletion Syndrome
  • deletion 22q11.2 syndrome
  • Shprintzen syndrome
  • VCF-Velocardiofacial syndrome
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. https://www.ncbi.nlm.nih.gov/pubmed/19243607
References:
Ontology: Human Disease   (DOID:12583)
OTHER velocardiofacial syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TBX1 Velocardiofacial syndrome 192430
ZEBRAFISH MODELS
Fish Conditions Citations
tbx1tm208/tm208 standard conditions Piotrowski et al., 2003
PHENOTYPE No data available

CITATIONS (2)