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Disease Ontology Browser
primary hyperoxaluria type 2 (DOID:0111671)
Alliance: disease page
Synonyms: D-glycerate dehydrogenase deficiency; HP2; L-glyceric aciduria; oxalosis IIglyoxylate reductase/hydroxypyruvate reductase deficiency
Alt IDs: OMIM:260000, MESH:C536415, NCI:C123213, ORDO:93599, UMLS_CUI:C0268165
Definition: A primary hyperoxaluria characterized by elevated urinary excretion of oxalate and L-glycerate, recurrent nephrolithiasis and nephrocalcinosis, and end-stage renal disease that has_material_basis_in homozygous or compound heterozygous mutation in GRHPR on chromosome 9p13.2.

Disease References using Mouse Models (2)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
MGI 6.17
The Jackson Laboratory