Experimental Factor Ontology

Last uploaded: November 18, 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

database_cross_reference

UMLS:C0007001

Orphanet:79161

MEDGEN:2825

MedDRA:10061023

MESH:D002239

NANDO:2100164

NCIT:C97089

DOID:2978

GARD:18946

ICD9:271.8

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://identifiers.org/medgen/2825

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

http://identifiers.org/mesh/D002239

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

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

has_exact_synonym

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

has_related_synonym

disorder of carbohydrate metabolism

carbohydrate metabolic disorder

id

MONDO:0019214

in_subset

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

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

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

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

label

inborn carbohydrate metabolic disorder

notation

MONDO:0019214

preferred label

inborn carbohydrate metabolic disorder

prefLabel

inborn carbohydrate metabolic disorder

subClassOf

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

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

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