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Disease association ontology term - MONDO:0019189 - inborn disorder of amino acid and other organic acid metabolism

Term summary

ID
MONDO:0019189
Name
inborn disorder of amino acid and other organic acid metabolism
Ontology or CV name
Disease association

Parents

Annotation

Disease association

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:0009825 - 5-oxoprolinase deficiency

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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:0008963 - Chediak-Higashi syndrome

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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:0012393 - congenital brain dysgenesis due to glutamine synthetase deficiency

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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:0009285 - gamma-glutamyl transpeptidase deficiency

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MONDO:0009259 - gamma-glutamylcysteine synthetase deficiency

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MONDO:0009947 - glutathione synthetase deficiency with 5-oxoprolinuria

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MONDO:0009284 - glutathione synthetase deficiency without 5-oxoprolinuria

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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:0008962 - Griscelli syndrome type 1

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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:0019531 - hemolytic anemia due to glutathione reductase deficiency

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MONDO:0011006 - hereditary spastic paraplegia 9A

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MONDO:0014885 - Hermansky-Pudlak syndrome 10

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MONDO:0011997 - Hermansky-Pudlak syndrome 2

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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:0004736 - inborn disorder of amino acid metabolism

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MONDO:0000688 - inborn organic aciduria

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MONDO:0017909 - inherited glutathione synthetase deficiency

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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:0009607 - methionine adenosyltransferase deficiency

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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:0011683 - oculocutaneous albinism type 4

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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:0009593 - spondylometaphyseal dysplasia, Sedaghatian type

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MONDO:0010083 - succinic semialdehyde dehydrogenase deficiency

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MONDO:0980701 - sulfite oxidase deficiency due to molybdenum cofactor deficiency type B2

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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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