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Ontology Browser

Term:
Parent Terms Term With Siblings Child Terms
chromosome 22q11.2 deletion syndrome, distal  
A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 22q11.2 region, distinct from DiGeorge syndrome and velocardiofacial syndrome. (DO)
DiGeorge syndrome +   
velocardiofacial syndrome  

Synonyms
Exact Synonyms: DiGeorge syndrome and Velocardiofacial syndrome ;   distal 22q11.2 microdeletion syndrome
Primary IDs: MESH:C567511
Alternate IDs: OMIM:611867
Xrefs: ORDO:261330
Definition Sources: https://pubmed.ncbi.nlm.nih.gov/18179902/ "DO" "DO", https://research.nhgri.nih.gov/atlas/condition/22q11-2-deletion-syndrome "DO" "DO"

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