JSON

mild phosphoribosylpyrophosphate synthetase superactivity

^ http://purl.obolibrary.org/obo/MONDO_0018463

Mild phosphoribosylpyrophosphate (PRPP) synthetase superactivity is the mild and late-onset form of PRPP synthetase superactivity, an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, leading to urolithiasis and gout. This form is not associated with any neuropathy or central nervous system (CNS) disorders. [ Orphanet:411536 ]

Term info

database cross reference
  • UMLS:CN237443 (MONDO:equivalentTo)
  • Orphanet:411536 (MONDO:equivalentTo)
Subsets

ordo_clinical_subtype

definition

Mild phosphoribosylpyrophosphate (PRPP) synthetase superactivity is the mild and late-onset form of PRPP synthetase superactivity, an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, leading to urolithiasis and gout. This form is not associated with any neuropathy or central nervous system (CNS) disorders.

exactMatch

http://purl.obolibrary.org/obo/Orphanet_411536, http://linkedlifedata.com/resource/umls/id/CN237443

has exact synonym

mild PRPS1 superactivity, mild PRPP synthetase superactivity

id

MONDO:0018463