FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term xanthinuria type I ID (Ontology) DOID:0070452 (Human Disease)
Definition A xanthinuria characterized by isolated deficiency of xanthine dehydrogenase that has_material_basis_in homozygous or compound heterozygous mutation in the XDH gene on chromosome 2p23.
Also Known As "XAN1"
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DO.org
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Data Class Field Records
Human Disease Models (FBhh)  DOID       1
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 Genes Human Disease Models
 xanthinuria type I       5      1
 for disease ribbon | xanthinuria type I       5       --
 model of | xanthinuria type I       5       --
Spanning Tree (Parents/Children)
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autosomal recessive disease___________
purine-pyrimidine metabolic disorder__|
                                      xanthinuria
                                       |__xanthinuria type I  6 rec.
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Is a xanthinuria
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Synonyms
  • "XAN1" EXACT OMO:0003012
Secondary IDs
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GARD:5621
MESH:C562584
MIM:278300
ORDO:93601
SNOMEDCT_US_2023_03_01:836343001
UMLS_CUI:C0268118