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DO Term : xanthinuria type I [DOID:0070452] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

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.

synonyms:
UMLS_CUI:C0268118,
ORDO:93601,
SNOMEDCT_US_2023_03_01:836343001,
XAN1,
OMIM:278300,
MESH:C562584,
278300,
GARD:5621

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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