Mondo Disease Ontology

Last uploaded: May 9, 2024
Preferred Name

inborn carbohydrate metabolic disorder

Synonyms

carbohydrate metabolism disorder

disorder of carbohydrate transport and metabolism

inborn carbohydrate metabolic process disorder

inborn errors of carbohydrate metabolism

inborn error of carbohydrate metabolic process

rare inborn error of carbohydrate metabolic process

inborn carbohydrate metabolism disorder

disorder of carbohydrate metabolism

carbohydrate metabolic disorder

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

database_cross_reference

NCIT:C97089

GARD:18946

DOID:2978

ICD9:271.8

MedDRA:10061023

MESH:D002239

Orphanet:79161

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

carbohydrate metabolism disorder

disorder of carbohydrate transport and metabolism

inborn carbohydrate metabolic process disorder

inborn errors of carbohydrate metabolism

inborn error of carbohydrate metabolic process

rare inborn error of carbohydrate metabolic process

inborn carbohydrate metabolism disorder

has_related_synonym

disorder of carbohydrate metabolism

carbohydrate metabolic disorder

id

MONDO:0019214

in_subset

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

treeView

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

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

subClassOf

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

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

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