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MIRAGE
primary hyperoxaluria type 3
Summary
- Synonym
-
- HP3
- PH III
- primary hyperoxaluria type III
- Definition
- A primary hyperoxaluria characterized by recurring calcium oxalate stones that has_material_basis_in homozygous or compound heterozygous mutation in the HOGA1 gene on chromosome 10q24.2.
- Super Class
- primary hyperoxaluria
External Links
- Disease Ontology
- DOID:0111672
- Mondo Disease Ontology
- UMLS
- NCI Thesaurus
- ORDO
- GARD
- WikiPathways (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q86XE5 | 4-hydroxy-2-oxoglutarate aldolase, mitochondrial |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0003159 | Hyperoxaluria |
| HP:0100518 | Dysuria |
| HP:0003110 | Abnormality of urine homeostasis |
| HP:0012531 | Pain |
| HP:0000121 | Nephrocalcinosis |
| HP:0008672 | Calcium oxalate nephrolithiasis |
| HP:0012211 | Abnormal renal physiology |
| HP:0000790 | Hematuria |
| HP:0100515 | Pollakisuria |
| HP:0000007 | Autosomal recessive inheritance |
