Disease - Hyperoxaluria primary 3
- DefinitionA disorder phenotypically similar to hyperoxaluria type 1 and type 2. It is characterized by increase in urinary oxalate excretion and mild glycolic aciduria. Clinical manifestations include calcium oxalate urolithiasis, hematuria, pain, and/or urinary tract infection.
- AcronymHP3
- Alternative names
- Cross references
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Browse 1 entry- 4-hydroxy-2-oxoglutarate aldolase, mitochondrial · Gene: HOGA1 (C10orf65, DHDPSL) · Homo sapiens (Human) · EC:4.1.3.16 · 327 amino acids · Evidence at protein level · Annotation score: 5/5