primary hyperoxaluria

Summary

DOID:2977 - primary hyperoxaluria

Disease Ontology 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.

Synonyms:

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: agxt, grhpr, hoga1, grhpr.2

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0002474 - primary hyperoxaluria

MONDO:0002474 - primary hyperoxaluria

MIM:

MIM:260000 - HYPEROXALURIA, PRIMARY, TYPE II; HP2
MIM:613616 - HYPEROXALURIA, PRIMARY, TYPE III; HP3

MIM:260000 - HYPEROXALURIA, PRIMARY, TYPE II; HP2

MIM:613616 - HYPEROXALURIA, PRIMARY, TYPE III; HP3

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): carbohydrate metabolic disorder (is_a), kidney disease (is_a)