JSON

inborn disorder of purine metabolism

^ http://purl.obolibrary.org/obo/MONDO_0019236

An inherited metabolic disease that is has its basis in the disruption of purine nucleobase metabolic process. [ MONDO:patterns/inborn_metabolic ]

Term info

database cross reference
  • UMLS:C0268104 (Orphanet:79191/e)
  • Orphanet:79191 (MONDO:equivalentTo)
  • MedDRA:10061476 (Orphanet:79191/e)
Subsets

disease_grouping, ordo_group_of_disorders

closeMatch

http://identifiers.org/meddra/10061476

definition

An inherited metabolic disease that is has its basis in the disruption of purine nucleobase metabolic process.

exactMatch

http://purl.obolibrary.org/obo/Orphanet_79191

has exact synonym

inborn purine nucleobase metabolic process disorder, inborn error of purine nucleobase metabolic process, rare inborn error of purine nucleobase metabolic process

has related synonym

disorder of purine metabolism

id

MONDO:0019236