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GENE - TERM ANNOTATION REPORT

RGD ID: 620957
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Ebp
Name: EBP, cholestenol delta-isomerase
Acc ID: DOID:2581
Term: chondrodysplasia punctata
Definition: A syndrome that is characterized by abnormal calcification of the epiphyses, causing stippling in radiography. (DO)
Definition Source(s): https://en.wikipedia.org/wiki/Chondrodysplasia_punctata#cite_note-Fitz2-1 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/22229330 "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)
Ebp ISOEBP (Homo sapiens)734908RGDCDPX2, OMIM:302960;DNA:point mutation:exon:W29X, R63X 
Ebp ISOEBP (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanismPMID:18176751
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