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GENE - TERM ANNOTATION REPORT

RGD ID: 628746
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Copb2
Name: COPI coat complex subunit beta 2
Acc ID: DOID:9001870
Term: Osteoporosis, Childhood- or Juvenile-Onset, with Developmental Delay
Definition: Characterized by evidence of osteopenia or osteoporosis, with recurrent fractures following minor trauma in some patients. Developmental delay is variable. Caused by heterozygous mutation in the COPB2 gene on chromosome 3q23.
Definition Source(s): MIM:619884
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)
Copb2 ISOCOPB2 (Homo sapiens)7240710OMIM  
Copb2 ISOCOPB2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Osteoporosis, childhood- or juvenile-onset, with developmental delayPMID:25741868 PMID:29036432 PMID:34450031 PMID:37734708
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