ZFIN Human Disease: mitochondrial complex IV deficiency nuclear type 2

OBO ID: DOID:0080357

Term Name:	mitochondrial complex IV deficiency nuclear type 2		Search Ontology:
Synonyms:	fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 1 MC4DN2
Definition:	A COX deficiency, infantile mitochondrial myopathy that has_material_basis_in compound heterozygous mutation in the SCO2 gene on chromosome 22q13. https://pubmed.ncbi.nlm.nih.gov/10746561/
References:	OMIM:604377 UMLS_CUI:C5399977
Ontology:	Human Disease ( DOID:0080357 )

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 2 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
SCO2	sco2	Mitochondrial complex IV deficiency, nuclear type 2	604377

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None