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Mondo Disease Ontology
| Preferred Name | inborn disorder of branched-chain amino acid metabolism | |
| Synonyms |
branched chain amino acid metabolism disorder disorder of branched chain amino acid metabolism rare inborn error of branched-chain amino acid metabolic process inborn disorder of branched-chain amino acid metabolism inborn branched-chain amino acid metabolic process disorder inborn error of branched-chain amino acid metabolic process disorder of branched-chain amino acid metabolism |
|
| Definitions |
An inherited metabolic disease that is has its basis in the disruption of branched-chain amino acid metabolic process. Editor note: consider parent for non-inborn form |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0019242 |
|
| comment |
Editor note: consider parent for non-inborn form
|
|
| database_cross_reference |
UMLS:C0342712 icd11.foundation:5456505 SCTID:116020001 Orphanet:79197 GARD:18971 MEDGEN:87452
|
|
| definition |
An inherited metabolic disease that is has its basis in the disruption of branched-chain amino acid metabolic process.
|
|
| has_exact_synonym |
rare inborn error of branched-chain amino acid metabolic process inborn disorder of branched-chain amino acid metabolism inborn branched-chain amino acid metabolic process disorder inborn error of branched-chain amino acid metabolic process disorder of branched-chain amino acid metabolism
|
|
| has_related_synonym |
branched chain amino acid metabolism disorder disorder of branched chain amino acid metabolism
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|
| IAO_0000233 | ||
| id |
MONDO:0019242
|
|
| 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 branched-chain amino acid metabolism
|
|
| notation |
MONDO:0019242
|
|
| prefLabel |
inborn disorder of branched-chain amino acid metabolism
|
|
| skos_exactMatch |
http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/5456505 http://linkedlifedata.com/resource/umls/id/C0342712 http://purl.obolibrary.org/obo/Orphanet_79197 |
|
| terms_conformsTo |
http://purl.obolibrary.org/obo/inborn_metabolic.yaml http://purl.obolibrary.org/obo/mondo/patterns/inborn_metabolic_disrupts.yaml |
|
| treeView |
http://purl.obolibrary.org/obo/MONDO_0019189 |
|
| excluded subClassOf | ||
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0019189 |
| Delete | Subject | Author | Type | Created |
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