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Digital medicine Outcomes Value Set (DOVeS) Ontology
Last uploaded:
December 13, 2023
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| 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 |
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| 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 |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0019242 |
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| comment |
Editor note: consider parent for non-inborn form
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| altLabel |
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
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|
| definition |
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
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| 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
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| has_related_synonym |
branched chain amino acid metabolism disorder disorder of branched chain amino acid metabolism
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| IAO_0000233 | ||
| label |
inborn disorder of branched-chain amino acid metabolism
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| prefixIRI |
MONDO:0019242
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| prefLabel |
inborn disorder of branched-chain amino acid metabolism
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|
| textual definition |
An inherited metabolic disease that is has its basis in the disruption of branched-chain amino acid metabolic process.
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| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0019189 |
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