Disease association ontology term - MONDO:0004739 - urea cycle disorder

Term summary

ID: MONDO:0004739
Name: urea cycle disorder
Ontology or CV name: Disease association
Definition: A genetic inborn error of metabolism characterized by the deficiency of one of the enzymes necessary for the urea cycle. It results in accumulation of ammonia in the body.

Parents

is_a inborn disorder of amino acid metabolism

Annotation

Disease association

MONDO:0004739 - urea cycle disorder

References:

PB_REF:0000003

Genes:

MONDO:0008814 - arginase deficiency

References:

Genes:

MONDO:0008815 - argininosuccinic aciduria

References:

PB_REF:0000006

Genes:

MONDO:0009376 - carbamoyl phosphate synthetase I deficiency disease

References:

PB_REF:0000006

Genes:

MONDO:0015991 - citrullinemia

References:

PB_REF:0000003

Genes:

arg12 (SPBC428.05c)

MONDO:0008988 - citrullinemia type I

References:

PB_REF:0000006

Genes:

arg12 (SPBC428.05c)

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

References:

PB_REF:0000006

Genes:

MONDO:0011717 - hyperinsulinism-hyperammonemia syndrome

References:

PB_REF:0000006

Genes:

MONDO:0010703 - ornithine carbamoyltransferase deficiency

References:

PB_REF:0000006

Genes:

arg3 (SPAC4G9.10)

MONDO:0009393 - ornithine translocase deficiency

References:

PB_REF:0000003

Genes:

car2 (SPBC21C3.08c)