ZFIN Human Disease: mitochondrial complex IV deficiency nuclear type 6

OBO ID: DOID:0080358

Term Name:	mitochondrial complex IV deficiency nuclear type 6		Search Ontology:
Synonyms:	fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 2 MC4DN6
Definition:	A COX deficiency, infantile mitochondrial myopathy that has_material_basis_in compound heterozygous mutation in the COX15 gene on chromosome 10q24. https://pubmed.ncbi.nlm.nih.gov/10545952/
References:	OMIM:615119 UMLS_CUI:C3554534
Ontology:	Human Disease ( DOID:0080358 )

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 6 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
COX15	cox15	Mitochondrial complex IV deficiency, nuclear type 6	615119

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None