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DO Term : primary hyperoxaluria type 3 [DOID:0111672] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A primary hyperoxaluria characterized by recurring calcium oxalate stones that has_material_basis_in homozygous or compound heterozygous mutation in the HOGA1 gene on chromosome 10q24.2.
  • synonyms:
  • HP3,
  • NCI:C123214,
  • 613616,
  • PH III,
  • ORDO:93600,
  • SNOMEDCT_US_2023_03_01:734990008,
  • OMIM:613616,
  • UMLS_CUI:C3150878,
  • primary hyperoxaluria type III,
  • GARD:10738
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