FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term velocardiofacial syndrome ID (Ontology) DOID:12583 (Human Disease)
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.
Also Known As "Shprintzen syndrome" ; "VCF-Velocardiofacial syndrome"
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 Genes
 velocardiofacial syndrome       1
 for disease ribbon | velocardiofacial syndrome       1
 model of | velocardiofacial syndrome       1
Spanning Tree (Parents/Children)
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  chromosomal disease
   |__chromosomal deletion syndrome
       |__velocardiofacial syndrome  1 rec.
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Is a chromosomal deletion syndrome
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Synonyms
  • "Shprintzen syndrome" EXACT
    "VCF-Velocardiofacial syndrome" EXACT
Secondary IDs
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ICD10CM:Q93.81
ICD9CM:758.32
MESH:D004062
MIM:192430
SNOMEDCT_US_2023_03_01:205642004
UMLS_CUI:C0220704