OBO ID: DOID:12583 |
Term Name: | velocardiofacial syndrome | Search Ontology: | |
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Synonyms: |
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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. (2) | ||
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Ontology: | Human Disease ( DOID:12583 ) |
OTHER velocardiofacial syndrome PAGES
ZEBRAFISH MODELS
Fish | Conditions | Citations |
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tbx1tm208/tm208 | standard conditions | Piotrowski et al., 2003 |
PHENOTYPE
No data available
CITATIONS (2)
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