OBO ID: DOID:2977
Term Name: primary hyperoxaluria Search Ontology:
Synonyms:
Definition: A carbohydrate metabolic disorder characterized by impaired glyoxylate metabolism resulting in accumulation of oxalate throughout the body typically manifesting as kidney and bladder stones. (2)
References:
  • ICD10CM:E72.53
  • ICD10CM:R82.992
  • MESH:D006959
  • MESH:D006960
  • NCI:C123158
  • OMIM:PS259900
  • ORDO:416
  • SNOMEDCT_US_2023_03_01:190766003
  • SNOMEDCT_US_2023_03_01:367621000119107
  • UMLS_CUI:C0020500
  • UMLS_CUI:C0020501
Ontology: Human Disease   ( DOID:2977 )
OTHER primary hyperoxaluria PAGES
GENES INVOLVED No data available
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS (1)