JSON

inborn carbohydrate metabolic disorder

Go to external page 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 ]

Synonyms: 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

This is just here as a test because I lose it

Term information

database cross reference
  • MESH:D002239 (MONDO:equivalentTo)
  • GARD:18946 (MONDO:GARD)
  • Orphanet:79161 (MONDO:equivalentTo)
  • NCIT:C97089 (MONDO:equivalentTo)
  • MEDGEN:2825 (MONDO:equivalentTo)
  • MedDRA:10061023 (Orphanet:79161/e)
  • ICD9:271.8 (DOID:2978)
  • DOID:2978 (MONDO:equivalentTo)
  • NANDO:2100164 (https://orcid.org/0000-0003-0011-764X)
  • UMLS:C0007001 (MONDO:equivalentTo)
Subsets

gard_rare, disease_grouping, rare, ordo_group_of_disorders

closeMatch

http://identifiers.org/meddra/10061023

conformsTo

http://purl.obolibrary.org/obo/mondo/patterns/inborn_metabolic.yaml

http://purl.obolibrary.org/obo/mondo/patterns/inborn_metabolic_disrupts.yaml

exactMatch

http://identifiers.org/medgen/2825

http://purl.obolibrary.org/obo/NCIT_C97089

http://www.orpha.net/ORDO/Orphanet_79161

http://identifiers.org/mesh/D002239

http://purl.obolibrary.org/obo/DOID_2978

http://linkedlifedata.com/resource/umls/id/C0007001

has related synonym

disorder of carbohydrate metabolism

carbohydrate metabolic disorder

id

MONDO:0019214