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GENE - TERM ANNOTATION REPORT

RGD ID: 18539906
Species: Chlorocebus sabaeus
RGD Object: Gene
Symbol: HDAC4
Name: histone deacetylase 4
Acc ID: DOID:0111704
Term: chromosome 2q37 deletion syndrome
Definition: A chromosomal deletion syndrome characterized by variable features, likely resulting from different sized deletions, including; brachydactyly type E, short stature, mild to moderate intellectual disability, behavioral abnormalities, and dysmorphic facial features that has_material_basis_in heterozygosity for a contiguous deletion of several genes on chromosome 2q37.2. (DO)
Definition Source(s): https://ghr.nlm.nih.gov/condition/2q37-deletion-syndrome "DO" "DO", PMID:23188045 "DO" "DO", PMID:24715439 "DO" "DO", PMID:25402011 "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
HDAC4 ISOHDAC4 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: 2q37 microdeletion syndrome | ClinVar Annotator: match by term: Chromosome 2q37 deletion syndromePMID:10958686 PMID:11486037 PMID:20691407 PMID:23188045 PMID:24715439 PMID:25741868 PMID:28492532 PMID:33537682
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