ZFIN Human Disease: xanthinuria

OBO ID: DOID:0060236

Term Name:	xanthinuria		Search Ontology:
Synonyms:	classic xanthinuria hereditary xanthinuria xanthine dehydrogenase deficiency xanthine oxidase deficiency
Definition:	A purine-pyrimidine metabolic disorder characterized by deficiency of xanthine oxidase, resulting in excretion of large amounts of xanthine in the urine and the formation of xanthine stones. (3)
References:	ICD10CM:E79.8 OMIM:PS278300 ORDO:3467 SNOMEDCT_US_2023_03_01:190919008 UMLS_CUI:C0220988
Ontology:	Human Disease ( DOID:0060236 )

Relationships

is a type of:	autosomal recessive disease purine-pyrimidine metabolic disorder autosomal recessive disease purine-pyrimidine metabolic disorder Show first 5 Terms
has subtype:	xanthinuria type I xanthinuria type II xanthinuria type I xanthinuria type II Show first 5 Terms

OTHER xanthinuria PAGES

Alliance (1)

GENES INVOLVED No data available

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None