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1 Annotations Found.

An association has been curated linking Xdh and Pseudovaginal Perineoscrotal Hypospadias in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with XDH (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Pseudovaginal Perineoscrotal Hypospadias  (DOID:9001561)
  • 90 papers in RGD have been used to annotate Xdh
  • Curation Notes: ClinVar Annotator: match by term: 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
  • Original References(s): PMID:18384427 PMID:28492532

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