WormMine: DiseaseOntology DOID:0111180 French Canadian Leigh disease Disease Ontology

• Namespace: disease_ontology
• Obsolete: false
• Description: A cytochrome-c oxidase deficiency disease characterized by metabolic and/or neurological crises, chronic hyperlactataemia, hypotonia, ataxia, mild facial dysmorphism, delayed development and development of lesions in the brainstem and basal ganglia that has_material_basis_in homozygous or compound heterozygous mutations in LRPPRC on 2p21.

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 involves 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:3762	cytochrome-c oxidase deficiency disease	A mitochondrial metabolism disease that is characterized by deficiency of cytochrome c oxidase, myopathy, hepatomegaly, hypertrophic cardiomyopathy, lactic acidosis, and Leigh syndrome, and is caused by mutations related to oxidative phosphorylation.
DOID:700	mitochondrial metabolism disease	An inherited metabolic disorder that involves mitochondrial metabolism dysfunction.
DOID:0111180	French Canadian Leigh disease	A cytochrome-c oxidase deficiency disease characterized by metabolic and/or neurological crises, chronic hyperlactataemia, hypotonia, ataxia, mild facial dysmorphism, delayed development and development of lesions in the brainstem and basal ganglia that has_material_basis_in homozygous or compound heterozygous mutations in LRPPRC on 2p21.

6 Relations

Relationship	Parent Term . Identifier	Child Term . Identifier
is_a	DOID:3762	DOID:0111180
is_a	DOID:4	DOID:0111180
is_a	DOID:0014667	DOID:0111180
is_a	DOID:630	DOID:0111180
is_a	DOID:655	DOID:0111180
is_a	DOID:700	DOID:0111180

6 Synonyms

• Name: French Canadian type COX deficiency
• Type: synonym

• Name: French Canadian type cytochrome c oxidase deficiency
• Type: synonym

• Name: French Canadian type Leigh syndrome
• Type: synonym

• Name: mitochondrial complex IV deficiency nuclear type 5
• Type: synonym

• Name: Saguenay Lac saint Jean type COX deficiency
• Type: synonym

• Name: Saguenay Lac saint Jean type Leigh syndrome
• Type: synonym