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GENE - TERM ANNOTATION REPORT

RGD ID: 3353
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Plod2
Name: procollagen lysine, 2-oxoglutarate 5-dioxygenase 2
Acc ID: DOID:12347
Term: osteogenesis imperfecta
Definition: An osteochondrodysplasia that has_material_basis_in a deficiency in type-I collagen which results_in brittle bones and defective connective tissue. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Osteogenesis_imperfecta "DO" "DO", http://ghr.nlm.nih.gov/condition/osteogenesis-imperfecta "DO" "DO", http://orthoinfo.aaos.org/topic.cfm?topic=a00051 "DO" "DO", http://osteogenesisimperfecta.org/ "DO" "DO", http://www.niams.nih.gov/Health_Info/bone/osteogenesis_Imperfecta/ "DO" "DO", http://www.nlm.nih.gov/medlineplus/ency/article/001573.htm "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)
Plod2 ISOPLOD2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Lobstein disease | ClinVar Annotator: match by term: Osteogenesis imperfectaPMID:22689593 PMID:25086671 PMID:25238597 PMID:25741868 PMID:28492532 PMID:29178448 PMID:32655337
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