nuclear type mitochondrial complex I deficiency 10

Term ID

DOID:0112075

Synonyms

MC1DN10

Definition

A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF2 gene on chromosome 5q12.1. https://pubmed.ncbi.nlm.nih.gov/16200211/

References

OMIM:618233

Ontology

Human Disease ( DOID:0112075 )

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