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GENE - TERM ANNOTATION REPORT

RGD ID: 1309898
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Bdh2
Name: 3-hydroxybutyrate dehydrogenase 2
Acc ID: DOID:3633
Term: beta-mannosidosis
Definition: A lysosomal storage disease that has_material_basis_in deficiency of the beta-A-manosidase enzyme resulting in the disruption of N-linked glycoprotein oligosaccharide catabolism. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Beta-mannosidosis "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)
Bdh2 ISOBDH2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Beta-D-mannosidosisPMID:12468273 PMID:28492532 PMID:28942967 PMID:29432562 PMID:30455226 PMID:30951195 PMID:9384606
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