chromosome 22q11.2 deletion syndrome, distal

Summary
Synonym
  • DiGeorge syndrome and Velocardiofacial syndrome
  • distal 22q11.2 microdeletion syndrome
Definition
A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 22q11.2 region, distinct from DiGeorge syndrome and velocardiofacial syndrome.
Super Class
chromosomal deletion syndrome
Disease Ontology
DOID:0060413
Mondo Disease Ontology
MeSH
ORDO
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying all 5 entries
Gene ID Gene Symbol Description Source
5297 PI4KA phosphatidylinositol 4-kinase alpha
7290 HIRA histone cell cycle regulator
9342 SNAP29 synaptosome associated protein 29
51586 MED15 mediator complex subunit 15
58510 PRODH2 proline dehydrogenase 2
Displaying all 4 entries
Gene ID Gene Symbol Description Source
18100 Mrpl40 mitochondrial ribosomal protein L40
67474 Snap29 synaptosomal-associated protein 29
94112 Med15 mediator complex subunit 15
224020 Pi4ka phosphatidylinositol 4-kinase alpha

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024