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VARIANT - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking CV345524 and autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
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  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • 2 RGD objects have been annotated to autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques  (DOID:0112013)
  • 0 papers in RGD have been used to annotate CV345524
  • Curation Notes: ClinVar Annotator: match by term: Olmsted syndrome 1


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