WormMine: DiseaseOntology DOID:9271 ornithine carbamoyltransferase deficiency Disease Ontology

• Namespace: disease_ontology
• Obsolete: false
• Description: An urea cycle disorder that involves a mutated and ineffective form of the enzyme ornithine transcarbamylase.

1 Ontology

• Name: Disease Ontology

7 Parents

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: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.
DOID:9271	ornithine carbamoyltransferase deficiency	An urea cycle disorder that involves a mutated and ineffective form of the enzyme ornithine transcarbamylase.

6 Relations

Relationship	Parent Term . Identifier	Child Term . Identifier
is_a	DOID:9267	DOID:9271
is_a	DOID:630	DOID:9271
is_a	DOID:0014667	DOID:9271
is_a	DOID:4	DOID:9271
is_a	DOID:9252	DOID:9271
is_a	DOID:655	DOID:9271

2 Synonyms

• Name: deficiency of citrulline phosphorylase
• Type: synonym

• Name: ornithine transcarbamylase deficiency
• Type: synonym