FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term chromosome 22q11.2 deletion syndrome, distal ID (Ontology) DOID:0060413 (Human Disease)
Definition A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 22q11.2 region, distinct from DiGeorge syndrome and velocardiofacial syndrome.
Also Known As "DiGeorge syndrome and Velocardiofacial syndrome" ; "distal 22q11.2 microdeletion syndrome"
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  chromosomal disease
   |__chromosomal deletion syndrome
       |__chromosome 22q11.2 deletion syndrome, distal
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Is a chromosomal deletion syndrome
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Synonyms
  • "DiGeorge syndrome and Velocardiofacial syndrome" EXACT
    "distal 22q11.2 microdeletion syndrome" EXACT
Secondary IDs
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MESH:C567511
MIM:611867
ORDO:261330