OBO ID: DOID:0111671 |
Term Name: | primary hyperoxaluria type 2 | Search Ontology: | |
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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 the GRHPR gene on chromosome 9p13.2. (2) | ||
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Ontology: | Human Disease ( DOID:0111671 ) |
OTHER primary hyperoxaluria type 2 PAGES
ZEBRAFISH MODELS
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PHENOTYPE
No data available
CITATIONS: None
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