mitochondrial complex IV deficiency nuclear type 13 - 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:	mitochondrial complex IV deficiency nuclear type 13	go back to main search page
Accession:	DOID:0080360	browse the term
Definition:	A COX deficiency, infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the COA6 gene on chromosome 1q42. (DO)
Synonyms:	exact_synonym:	CEMCOX4; MC4DN13; fatal infantile cardioencephalomyopathy due to cytochrome c oxidase (COX) deficiency-4; fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 4
	primary_id:	OMIM:616501

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Genes (1)

mitochondrial complex IV deficiency nuclear type 13

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

COA6

cytochrome c oxidase assembly factor 6

ISO

ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4

OMIM
ClinVar

PMID:22277967 PMID:24549041 PMID:25339201 PMID:25741868 PMID:25959673 More...

NCBI chr14:56,751,142...56,758,956

Term paths to the root

Path 1
Term	Annotations
disease	17412
Nutritional and Metabolic Diseases	7080
disease of metabolism	7080
Metabolic Brain Diseases	1451
mitochondrial encephalomyopathy	78
COX deficiency, infantile mitochondrial myopathy	5
mitochondrial complex IV deficiency nuclear type 13	1
Path 2
Term	Annotations
disease	17412
disease of anatomical entity	14873
nervous system disease	12960
peripheral nervous system disease	3993
neuropathy	3802
neuromuscular disease	2980
muscular disease	2091
muscle tissue disease	1265
myopathy	980
mitochondrial myopathy	121
mitochondrial encephalomyopathy	78
COX deficiency, infantile mitochondrial myopathy	5
mitochondrial complex IV deficiency nuclear type 13	1

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RGD DISEASE ONTOLOGY - ANNOTATIONS