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Disease association ontology term - MONDO:0004736 - inborn disorder of amino acid metabolism

Term summary

ID
MONDO:0004736
Name
inborn disorder of amino acid metabolism
Ontology or CV name
Disease association
Definition
An inherited disorder that affects the metabolism of the amino acids. Representative examples include alkaptonuria, homocystinuria, tyrosinemia, and phenylketonuria.

Parents

Annotation

Disease association

MONDO:0004736 - inborn disorder of amino acid metabolism

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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:0013869 - adenine phosphoribosyltransferase deficiency

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MONDO:0100255 - adenosine kinase deficiency

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MONDO:0007068 - adenylosuccinate lyase deficiency

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MONDO:0009053 - ALDH18A1-related de Barsy syndrome

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MONDO:0008814 - arginase deficiency

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MONDO:0008815 - argininosuccinic aciduria

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MONDO:0014702 - autosomal recessive complex spastic paraplegia type 9B

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MONDO:0018163 - autosomal recessive cutis laxa type 2A

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MONDO:0013051 - autosomal recessive cutis laxa type 2B

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MONDO:0027462 - autosomal recessive cutis laxa type 2C

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MONDO:0027451 - autosomal recessive cutis laxa type 2D

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MONDO:0008760 - beta-ketothiolase deficiency

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MONDO:0009376 - carbamoyl phosphate synthetase I deficiency disease

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MONDO:0015991 - citrullinemia

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MONDO:0008988 - citrullinemia type I

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MONDO:0009352 - classic homocystinuria

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MONDO:0013661 - combined malonic and methylmalonic acidemia

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MONDO:0014706 - cutis laxa, autosomal dominant 3

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MONDO:0009058 - cystathioninuria

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MONDO:0009067 - cystinuria

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MONDO:0014392 - developmental and epileptic encephalopathy, 25

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MONDO:0014593 - developmental and epileptic encephalopathy, 29

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MONDO:0014598 - developmental and epileptic encephalopathy, 31A

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MONDO:0014625 - developmental and epileptic encephalopathy, 33

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MONDO:0014933 - developmental and epileptic encephalopathy, 44

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MONDO:0000351 - disorder of methionine catabolism

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MONDO:0007495 - dystonia 5

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MONDO:0013166 - GABA aminotransaminase deficiency

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MONDO:0011612 - glycine encephalopathy

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MONDO:0958179 - glycine encephalopathy 1

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MONDO:0958192 - glycine encephalopathy 2

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MONDO:0100186 - GTP cyclohydrolase I deficiency with hyperphenylalaninemia

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MONDO:0012999 - guanidinoacetate methyltransferase deficiency

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MONDO:0011006 - hereditary spastic paraplegia 9A

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MONDO:0009666 - holocarboxylase synthetase deficiency

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MONDO:0004737 - homocystinuria

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MONDO:0009353 - homocystinuria due to methylene tetrahydrofolate reductase deficiency

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MONDO:0009377 - hyperammonemia due to N-acetylglutamate synthase deficiency

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MONDO:0011717 - hyperinsulinism-hyperammonemia syndrome

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MONDO:0009388 - hyperlysinemia

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MONDO:0013404 - hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase

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MONDO:0009400 - hyperprolinemia type 1

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MONDO:0009401 - hyperprolinemia type 2

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MONDO:0100058 - hypervalinemia and hyperleucine-isoleucinemia

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MONDO:0009448 - iminoglycinuria

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MONDO:0000688 - inborn organic aciduria

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MONDO:0017052 - intermediate maple syrup urine disease

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MONDO:0009109 - lysinuric protein intolerance

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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:0009354 - methylcobalamin deficiency type cblE

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MONDO:0009609 - methylcobalamin deficiency type cblG

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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:0957382 - multiple mitochondrial dysfunctions syndrome 7

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MONDO:0009736 - Neu-Laxova syndrome 1

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MONDO:0014466 - Neu-Laxova syndrome 2

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MONDO:0010645 - oculocerebrorenal syndrome

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MONDO:0009796 - ornithine aminotransferase deficiency

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MONDO:0010703 - ornithine carbamoyltransferase deficiency

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MONDO:0009393 - ornithine translocase deficiency

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MONDO:0011152 - PHGDH deficiency

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MONDO:0012596 - PSAT deficiency

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MONDO:0013531 - PSPH deficiency

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MONDO:0009908 - pterin-4 alpha-carbinolamine dehydratase 1 deficiency

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MONDO:0009529 - pyruvate dehydrogenase E3 deficiency

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MONDO:0010083 - succinic semialdehyde dehydrogenase deficiency

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MONDO:0018614 - undetermined early-onset epileptic encephalopathy

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MONDO:0004739 - urea cycle disorder

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MONDO:0010208 - wrinkly skin syndrome

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