Visualize Submit Comment
Metadata
ID DOID:0111671
Name primary hyperoxaluria type 2
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.
https://www.ncbi.nlm.nih.gov/books/NBK2692/, https://www.ncbi.nlm.nih.gov/pubmed/10484776
Xrefs

GARD:2836

MESH:C536415

NCI:C123213

OMIM:260000

ORDO:93599

SNOMEDCT_US_2023_03_01:40951006

UMLS_CUI:C0268165

Subsets

DO_rare_slim

NCIthesaurus

Synonyms

D-glycerate dehydrogenase deficiency [EXACT]

glyoxylate reductase/hydroxypyruvate reductase deficiency [EXACT]

HP2 [EXACT]

L-glyceric aciduria [EXACT]

oxalosis II [EXACT]

Parent Relationships

is_a primary hyperoxaluria

Add an item to the term tracker