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Disease association ontology term - MONDO:0000688 - inborn organic aciduria

Term summary

ID
MONDO:0000688
Name
inborn organic aciduria
Ontology or CV name
Disease association
Definition
An inherited disorder that affects the metabolism of any acidic compound containing carbon in a covalent linkage.

Parents

Annotation

Disease association

MONDO:0000688 - inborn organic aciduria

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Genes:

MONDO:0009603 - 3-hydroxyisobutyryl-CoA hydrolase deficiency

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MONDO:0009787 - 3-methylglutaconic aciduria type 3

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MONDO:0012435 - 3-methylglutaconic aciduria type 5

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MONDO:0044723 - 3-methylglutaconic aciduria type 8

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MONDO:0044724 - 3-methylglutaconic aciduria type 9

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MONDO:0859237 - 3-methylglutaconic aciduria, type VIIA

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MONDO:0014561 - 3-methylglutaconic aciduria, type VIIB

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MONDO:0008760 - beta-ketothiolase deficiency

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MONDO:0013661 - combined malonic and methylmalonic acidemia

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MONDO:0009666 - holocarboxylase synthetase deficiency

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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:0010184 - methylmalonic aciduria and homocystinuria type cblC

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MONDO:0015454 - multiple carboxylase deficiency

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MONDO:0009529 - pyruvate dehydrogenase E3 deficiency

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