WormMine: DiseaseOntology DOID:0070340 classic citrullinemia Disease Ontology

Name
Disease Ontology

Identifier	Name	Description
DOID:4	disease	A disease is a disposition (i) to undergo pathological processes that (ii) exists in an organism because of one or more disorders in that organism.
DOID:0014667	disease of metabolism	A disease that involving errors in metabolic processes of building or degradation of molecules.
DOID:630	genetic disease	A disease that has_material_basis_in genetic variations in the human genome.
DOID:655	inherited metabolic disorder	A disease of metabolism that is characterized by enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to inherited enzyme abnormality.
DOID:9252	amino acid metabolic disorder	An inherited metabolic disorder that is characterized by impaired synthesis and degradation of amino acids.
DOID:9273	citrullinemia	An inherited urea cycle disorder that involves the accumulation of ammonia and other toxic substances in the blood.
DOID:0070340	classic citrullinemia	A citrullinemia that has_material_basis_in homozygous or compound heterozygous mutation in the ASS1 gene, which encodes argininosuccinate synthetase, on chromosome 9q34.
DOID:9267	urea cycle disorder	An amino acid metabolic disorder that involves a deficiency of one of the enzymes in the urea cycle which is responsible for removing ammonia from the blood stream.

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