Global Code Book Ontology

Last uploaded: May 2, 2024
Preferred Name

inborn carbohydrate metabolic disorder
Synonyms

disorder of carbohydrate metabolism

carbohydrate metabolic disorder

inborn carbohydrate metabolism disorder

inborn carbohydrate metabolic process disorder

inborn error of carbohydrate metabolic process

disorder of carbohydrate transport and metabolism

carbohydrate metabolism disorder

rare inborn error of carbohydrate metabolic process

inborn errors of carbohydrate metabolism

Definitions

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

ID

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

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

http://identifiers.org/mesh/D002239

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

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

hasDbXref

EFO:1000061

Orphanet:79161

MedDRA:10061023

MESH:D002239

NCIT:C97089

DOID:2978

GARD:18946

ICD9:271.8

hasExactSynonym

inborn carbohydrate metabolism disorder

inborn carbohydrate metabolic process disorder

inborn error of carbohydrate metabolic process

disorder of carbohydrate transport and metabolism

carbohydrate metabolism disorder

rare inborn error of carbohydrate metabolic process

inborn errors of carbohydrate metabolism

hasRelatedSynonym

disorder of carbohydrate metabolism

carbohydrate metabolic disorder

IAO_0000115

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

id

MONDO:0019214

inSubset

http://purl.obolibrary.org/obo/mondo#rare

http://purl.obolibrary.org/obo/mondo#orphanet_rare

http://purl.obolibrary.org/obo/mondo#gard_rare

http://purl.obolibrary.org/obo/mondo#disease_grouping

http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders

label

inborn carbohydrate metabolic disorder

notation

MONDO:0019214

prefLabel

inborn carbohydrate metabolic disorder

subClassOf

http://purl.obolibrary.org/obo/MONDO_0019052

http://purl.obolibrary.org/obo/MONDO_0037792

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