Xanthinuria, type II

[anna-anagnostop]

Consider adding new DO term:

DO TERM NAME: Xanthinuria type II SUGGESTED DEF: A rare hereditary purine-pyrimidine metabolic disorder characterized by a dual deficiency of xanthine dehydrogenase and aldehyde oxidase that has_material_basis_in homozygous or compound heterozygous mutation in the MOCOS gene on chromosome 18q12 SYN: XAN2 SYN: XANTHINE DEHYDROGENASE AND ALDEHYDE OXIDASE, COMBINED DEFICIENCY OF SUGGESTED PARENT TERMS: xanthinuria DOID:0060236 PubMed IDs: PMID: 23203137 OMIM #: 603592

Thank you,

Anna V. Anagnostopoulos https://orcid.org/0000-0002-6490-7723

[allenbaron]

I think it makes sense in this case to add both xanthinuria subtypes with xanthinuria as a parent. We'll plan to add this as part of the next release (July).

Thank you Anna!

[anna-anagnostop]

Yes, it makes perfect sense to add xanthinuria type I as well. Thank you Allen.

[allenbaron]

'xanthinuria type II' will be available as DOID:0070453.

[anna-anagnostop]

Thanks again Allen!