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Mondo Disease Ontology
Last uploaded:
January 7, 2025
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| Preferred Name | inborn disorder of energy metabolism | |
| Synonyms |
disorder of energy metabolism inborn error of generation of precursor metabolites and energy rare inborn error of generation of precursor metabolites and energy inborn generation of precursor metabolites and energy disorder |
|
| Definitions |
An inherited metabolic disease that is has its basis in the disruption of generation of precursor metabolites and energy. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0019243 |
|
| database_cross_reference |
MEDGEN:1842265 GARD:18972 Orphanet:79200 UMLS:C5681282
|
|
| definition |
An inherited metabolic disease that is has its basis in the disruption of generation of precursor metabolites and energy.
|
|
| has_exact_synonym |
inborn error of generation of precursor metabolites and energy rare inborn error of generation of precursor metabolites and energy inborn generation of precursor metabolites and energy disorder
|
|
| has_related_synonym |
disorder of energy metabolism
|
|
| id |
MONDO:0019243
|
|
| 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 disorder of energy metabolism
|
|
| notation |
MONDO:0019243
|
|
| prefLabel |
inborn disorder of energy metabolism
|
|
| skos_exactMatch |
http://identifiers.org/medgen/1842265 |
|
| 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 |
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