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Disease association ontology term - MONDO:0019242 - inborn disorder of branched-chain amino acid metabolism

Term summary

ID
MONDO:0019242
Name
inborn disorder of branched-chain amino acid metabolism
Ontology or CV name
Disease association
Definition
An inherited metabolic disease that is has its basis in the disruption of branched-chain amino acid metabolic process.

Parents

Annotation

Disease association

MONDO:0009666 - holocarboxylase synthetase deficiency

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Genes:

MONDO:0100058 - hypervalinemia and hyperleucine-isoleucinemia

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Genes:

MONDO:0017052 - intermediate maple syrup urine disease

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MONDO:0009563 - maple syrup urine disease

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MONDO:0014057 - maple syrup urine disease, mild variant

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MONDO:0009529 - pyruvate dehydrogenase E3 deficiency

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Genes: