WormMine: DiseaseOntology DOID:0070239 primary coenzyme Q10 deficiency 2 Disease Ontology

• Namespace: disease_ontology
• Obsolete: false
• Description: A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the PDSS1 gene on chromosome 10p12.1.

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:700	mitochondrial metabolism disease	An inherited metabolic disorder that involves mitochondrial metabolism dysfunction.
DOID:0050730	coenzyme Q10 deficiency disease	A mitochondrial metabolism disease that is characterized by a deficiency of CoQ10 resulting from reduced biosynthesis.
DOID:0070239	primary coenzyme Q10 deficiency 2	A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the PDSS1 gene on chromosome 10p12.1.

6 Relations

Relationship	Parent Term . Identifier	Child Term . Identifier
is_a	DOID:0050730	DOID:0070239
is_a	DOID:700	DOID:0070239
is_a	DOID:655	DOID:0070239
is_a	DOID:630	DOID:0070239
is_a	DOID:4	DOID:0070239
is_a	DOID:0014667	DOID:0070239

4 Synonyms

• Name: coenzyme Q10 deficiency, primary, 2
• Type: synonym

• Name: COQ10D2
• Type: synonym

• Name: deafness-encephaloneuropathy-obesity-valvulopathy syndrome
• Type: synonym

• Name: hearing loss-encephaloneuropathy-obesity-valvulopathy syndrome
• Type: synonym