primary hyperoxaluria type 3

Term ID

DOID:0111672

Synonyms

• 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. (2)

References

• GARD:10738
• MIM:613616
• NCI:C123214
• ORDO:93600
• SNOMEDCT_US_2023_03_01:734990008
• UMLS_CUI:C3150878

Ontology

Human Disease   ( DOID:0111672 )