JSON

inborn carbohydrate metabolic disorder

^ http://purl.obolibrary.org/obo/MONDO_0019214

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

Term info

database cross reference
  • Orphanet:79161 (MONDO:equivalentTo)
  • EFO:1000061 (MONDO:equivalentTo)
  • NCIT:C97089 (MONDO:equivalentTo)
  • DOID:2978 (MONDO:equivalentTo)
  • MedDRA:10061023 (Orphanet:79161/e)
  • ICD9:271.8 (DOID:2978)
  • MESH:D002239 (MONDO:equivalentTo)
Subsets

disease_grouping, ordo_group_of_disorders

closeMatch

http://identifiers.org/meddra/10061023

definition

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

exactMatch

http://purl.obolibrary.org/obo/Orphanet_79161, http://purl.obolibrary.org/obo/NCIT_C97089, http://identifiers.org/mesh/D002239, http://purl.obolibrary.org/obo/DOID_2978

has exact synonym

inborn carbohydrate metabolic process disorder, disorder of carbohydrate transport and metabolism, inborn errors of carbohydrate metabolism, carbohydrate metabolism disorder, inborn carbohydrate metabolism disorder, rare inborn error of carbohydrate metabolic process, inborn error of carbohydrate metabolic process

has related synonym

disorder of carbohydrate metabolism, carbohydrate metabolic disorder

id

MONDO:0019214