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Metadata
ID DOID:0060413
Name chromosome 22q11.2 deletion syndrome, distal
Definition A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 22q11.2 region, distinct from DiGeorge syndrome and velocardiofacial syndrome.
https://pubmed.ncbi.nlm.nih.gov/18179902/, https://research.nhgri.nih.gov/atlas/condition/22q11-2-deletion-syndrome
Xrefs

MESH:C567511

MIM:611867

ORDO:261330

Subsets

DO_rare_slim

Synonyms

DiGeorge syndrome and Velocardiofacial syndrome [EXACT]

distal 22q11.2 microdeletion syndrome [EXACT]

Parent Relationships

is_a chromosomal deletion syndrome

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