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Disease association ontology term - MONDO:0800153 - urea cycle disorder or inherited hyperammonemia

Term summary

ID
MONDO:0800153
Name
urea cycle disorder or inherited hyperammonemia
Ontology or CV name
Disease association
Definition
A disorder of amino acid metabolism that has its basis in the disruption of the urea cycle or an inherited hyperammonemia (any specific disease which causes an inherited increased concentration of ammonia in the blood).

Parents

Annotation

Disease association

MONDO:0008814 - arginase deficiency

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Genes:

MONDO:0008815 - argininosuccinic aciduria

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Genes:

MONDO:0009376 - carbamoyl phosphate synthetase I deficiency disease

References:

Genes:

MONDO:0008988 - citrullinemia type I

References:

Genes:

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

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Genes:

MONDO:0011717 - hyperinsulinism-hyperammonemia syndrome

References:

Genes:

MONDO:0010703 - ornithine carbamoyltransferase deficiency

References:

Genes:

MONDO:0009393 - ornithine translocase deficiency

References:

Genes: