primary coenzyme Q10 deficiency 2 - Ontology Report

RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:	primary coenzyme Q10 deficiency 2	go back to main search page
Accession:	DOID:0070239	browse the term
Definition:	A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the PDSS1 gene on chromosome 10p12.1. (DO)
Synonyms:	exact_synonym:	COQ10D2; deafness-encephaloneuropathy-obesity-valvulopathy syndrome; hearing loss-encephaloneuropathy-obesity-valvulopathy syndrome
	primary_id:	OMIM:614651
	xref:	ORDO:254898

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Genes (2)

primary coenzyme Q10 deficiency 2

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Abi1

abl-interactor 1

ISO

ClinVar Annotator: match by term: Deafness-encephaloneuropathy-obesity-valvulopathy syndrome

ClinVar

PMID:25741868

NCBI chr17:85,098,837...85,179,829
Ensembl chr17:85,098,550...85,179,792

Pdss1

decaprenyl diphosphate synthase subunit 1

ISO

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 2 | ClinVar Annotator: match by term: Deafness-encephaloneuropathy-obesity-valvulopathy syndrome

OMIM
CTD
ClinVar

PMID:17332895 PMID:22494076 PMID:25264263 PMID:25326637 PMID:25741868 More...

NCBI chr17:85,059,953...85,098,739
Ensembl chr17:85,060,106...85,098,730

Term paths to the root

Path 1
Term	Annotations
disease	18969
Pathological Conditions, Signs and Symptoms	13343
Pathologic Processes	7990
Muscle Weakness	281
coenzyme Q10 deficiency disease	217
primary coenzyme Q10 deficiency 2	2
Path 2
Term	Annotations
disease	18969
disease of anatomical entity	18249
nervous system disease	14090
central nervous system disease	12430
brain disease	11668
movement disease	2583
Dyskinesias	2196
Ataxia	962
coenzyme Q10 deficiency disease	217
primary coenzyme Q10 deficiency 2	2

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RGD DISEASE ONTOLOGY - ANNOTATIONS