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inborn disorder of purine metabolism

Go to external page 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 ]

Synonyms: inborn purine nucleobase metabolic process disorder inborn error of purine nucleobase metabolic process rare inborn error of purine nucleobase metabolic process

This is just here as a test because I lose it

Term information

database cross reference
  • Orphanet:79191 (MONDO:equivalentTo)
  • UMLS:C0268104 (Orphanet:79191/e)
  • MedDRA:10061476 (Orphanet:79191/e)
  • GARD:18965 (Orphanet:79191)
Subsets

gard_rare, disease_grouping, rare, orphanet_rare, ordo_group_of_disorders

closeMatch

http://identifiers.org/meddra/10061476

exactMatch

http://www.orpha.net/ORDO/Orphanet_79191

has related synonym

disorder of purine metabolism

id

MONDO:0019236