JSON

severe phosphoribosylpyrophosphate synthetase superactivity

^ http://purl.obolibrary.org/obo/MONDO_0018464

Severe phosphoribosylpyrophosphate (PRPP) synthetase superactivity is the severe and early-onset form of PRPP synthetase superactivity, an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, that is characterized by urolithiasis, gout and neurodevelopmental anomalies. [ Orphanet:411543 ]

Term info

database cross reference
  • Orphanet:411543 (MONDO:equivalentTo)
  • UMLS:CN237444 (MONDO:equivalentTo)
Subsets

ordo_clinical_subtype

definition

Severe phosphoribosylpyrophosphate (PRPP) synthetase superactivity is the severe and early-onset form of PRPP synthetase superactivity, an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, that is characterized by urolithiasis, gout and neurodevelopmental anomalies.

exactMatch

http://purl.obolibrary.org/obo/Orphanet_411543, http://linkedlifedata.com/resource/umls/id/CN237444

has exact synonym

severe PRPP synthetase superactivity, severe PRPS1 superactivity

id

MONDO:0018464