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Primary Hyperoxaluria Type 3

Disease ID: disease_node_20470

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DbxrefGARD:10738, MIM:613616, NCI:C123214, ORDO:93600, SNOMEDCT_US_2023_03_01:734990008, UMLS_CUI:C3150878
SubclassofDOID_2977
Data SourceDOID
SynonymsHP3, PH III, primary hyperoxaluria type III
Doid Labelprimary hyperoxaluria type 3
Doid DescriptionA 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.
Disease Node Iddisease_node_20470
Doid IdDOID_0111672
LabelPrimary Hyperoxaluria Type 3