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 inborn errors of carbohydrate metabolism disorder of carbohydrate transport and metabolism carbohydrate metabolism disorder inborn carbohydrate metabolism disorder rare inborn error of carbohydrate metabolic process inborn error of carbohydrate metabolic process
Term information
- MEDGEN:2825 (MONDO:equivalentTo)
- Orphanet:79161 (MONDO:equivalentTo)
- UMLS:C0007001 (MONDO:equivalentTo)
- MedDRA:10061023 (Orphanet:79161/e)
- NANDO:2100164 (https://orcid.org/0000-0003-0011-764X)
- MESH:D002239 (MONDO:equivalentTo)
- ICD9:271.8 (DOID:2978)
- GARD:18946 (MONDO:GARD)
- NCIT:C97089 (MONDO:equivalentTo)
- DOID:2978 (MONDO:equivalentTo)
gard_rare, disease_grouping, rare, ordo_group_of_disorders
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://linkedlifedata.com/resource/umls/id/C0007001
http://purl.obolibrary.org/obo/DOID_2978