loading...| Preferred Name | inborn carbohydrate metabolic disorder | |
| Synonyms |
disorder of carbohydrate metabolism carbohydrate metabolic disorder 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 |
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| 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 |
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| database_cross_reference |
UMLS:C0007001 NCIT:C97089 GARD:18946 DOID:2978 ICD9:271.8 MEDGEN:2825 MedDRA:10061023 MESH:D002239 NANDO:2100164 Orphanet:79161 |
|
| definition |
An inherited metabolic disease that is has its basis in the disruption of carbohydrate metabolic process. |
|
| 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 |
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| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_group_of_disorders http://purl.obolibrary.org/obo/mondo/mondo-simple#rare http://purl.obolibrary.org/obo/mondo/mondo-simple#disease_grouping |
|
| label |
inborn carbohydrate metabolic disorder |
|
| notation |
MONDO:0019214 |
|
| prefLabel |
inborn carbohydrate metabolic disorder |
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| skos_closeMatch | ||
| skos_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 |
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| terms_conformsTo |
http://purl.obolibrary.org/obo/inborn_metabolic.yaml http://purl.obolibrary.org/obo/mondo/patterns/inborn_metabolic_disrupts.yaml |
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| treeView | ||
| subClassOf |