nuclear type mitochondrial complex I deficiency 9

Term ID

DOID:0112073

Synonyms

MC1DN9

Definition

A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS6 gene on chromosome 5p15.33. https://pubmed.ncbi.nlm.nih.gov/15372108/

References

OMIM:618232

Ontology

Human Disease ( DOID:0112073 )

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