ZFIN Human Disease: mitochondrial complex IV deficiency nuclear type 13

OBO ID: DOID:0080360

Term Name:	mitochondrial complex IV deficiency nuclear type 13		Search Ontology:
Synonyms:	fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 4 MC4DN13
Definition:	A COX deficiency, infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the COA6 gene on chromosome 1q42. https://pubmed.ncbi.nlm.nih.gov/25339201/
References:	OMIM:616501 UMLS_CUI:C4225304
Ontology:	Human Disease ( DOID:0080360 )

Relationships

is a type of:	autosomal recessive disease COX deficiency, infantile mitochondrial myopathy autosomal recessive disease COX deficiency, infantile mitochondrial myopathy Show first 5 Terms

OTHER mitochondrial complex IV deficiency nuclear type 13 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
COA6	coa6	Mitochondrial complex IV deficiency, nuclear type 13	616501

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None