xanthinuria type I

Term ID

DOID:0070452

Synonyms

• XAN1

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. https://pubmed.ncbi.nlm.nih.gov/9153281/

References

• GARD:5621
• MESH:C562584
• OMIM:278300
• ORDO:93601
• SNOMEDCT_US_2023_03_01:836343001
• UMLS_CUI:C0268118

Ontology

Human Disease   ( DOID:0070452 )