JSON

phosphoribosylpyrophosphate synthetase superactivity

^ http://purl.obolibrary.org/obo/MONDO_0010395

Phosphoribosylpyrophosphate (PRPP) synthetase superactivity is an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, comprised of two forms: an early-onset severe form characterized by gout, urolithiasis, and neurodevelopmental anomalies (severe PRPP synthetase superactivity) and a mild late-onset form with no neurologic involvement (mild PRPP synthetase superactivity). [ Orphanet:3222 ]

Term info

database cross reference
  • DOID:0111260 (MONDO:equivalentTo)
  • SCTID:723454008 (MONDO:equivalentTo)
  • Orphanet:3222 (OMIM:300661)
  • UMLS:C1970827 (Orphanet:3222)
  • OMIM:300661 (Orphanet:3222/e)
  • MESH:C567064 (MONDO:equivalentTo)
Subsets

ordo_disease

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4521, https://github.com/monarch-initiative/mondo/issues/3680

definition

Phosphoribosylpyrophosphate (PRPP) synthetase superactivity is an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, comprised of two forms: an early-onset severe form characterized by gout, urolithiasis, and neurodevelopmental anomalies (severe PRPP synthetase superactivity) and a mild late-onset form with no neurologic involvement (mild PRPP synthetase superactivity).

exactMatch

http://purl.obolibrary.org/obo/DOID_0111260, https://omim.org/entry/300661, http://identifiers.org/mesh/C567064, http://identifiers.org/snomedct/723454008, http://purl.obolibrary.org/obo/Orphanet_3222, http://linkedlifedata.com/resource/umls/id/C1970827

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0019743

has exact synonym

gout, PRPS-related, X-linked recessive, phosphoribosylpyrophosphate synthetase superactivity, X-linked recessive, PRPP synthetase superactivity, PRPS1 superactivity, phosphoribosylpyrophosphate synthetase superactivity

has related synonym

gout, PRPS-related

id

MONDO:0010395

Term relations