nuclear type mitochondrial complex I deficiency 16

Term ID

DOID:0112096

Synonyms

MC1DN16

Definition

A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF5 gene on chromosome 20p12.1. https://pubmed.ncbi.nlm.nih.gov/18940309/

References

OMIM:618238

Ontology

Human Disease ( DOID:0112096 )

Relationships

is a type of: autosomal recessive disease nuclear type mitochondrial complex I deficiency

autosomal recessive disease nuclear type mitochondrial complex I deficiency Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models

Citations