xanthinuria type II

xanthinuria type II

http://purl.obolibrary.org/obo/MONDO_0011346

Type II xanthinuria, a type of classical xanthinuria, is a rare autosomal recessive disorder of purine metabolism characterized by the deficiency of both xanthine dehydrogenase and aldehyde oxidase, leading to the formation of urinary xanthine urolithiasis and leading, in some patients, to kidney failure. Other less common manifestations include arthropathy, myopathy and duodenal ulcer, while some patients remain asymptomatic. [ Orphanet:93602 ]

Synonyms: xanthine dehydrogenase and aldehyde oxidase, combined deficiency of XAN2 XDH and AOX dual deficiency xanthinuria type II xanthine dehydrogenase and xanthine aldehyde oxidase dual deficiency

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This is just here as a test because I lose it

Term information

database cross reference

UMLS:C1863688 (Orphanet:93602)
MESH:C566358 (MONDO:equivalentTo)
Orphanet:93602 (OMIM:603592)
OMIM:603592 (Orphanet:93602/e)
GARD:5620 (Orphanet:93602)

Subsets

gard_rare, rare, nord_rare, orphanet_rare, clingen, ordo_etiological_subtype

exactMatch

http://linkedlifedata.com/resource/umls/id/C1863688

http://www.orpha.net/ORDO/Orphanet_93602

https://omim.org/entry/603592

http://identifiers.org/mesh/C566358

has related synonym

xanthinuria type 2

xanthinuria, type 2

xanthinuria, type II

type 2 xanthinuria

xanthine dehydrogenase and aldehyde oxidase combined deficiency of

type II xanthinuria

MONDO:0011346

seeAlso

https://rarediseases.info.nih.gov/diseases/5620/xanthinuria-type-2

https://search.clinicalgenome.org/kb/conditions/MONDO:0011346

Term relations

Subclass of:

hereditary xanthinuria