nuclear type mitochondrial complex I deficiency 26

Term ID

DOID:0112086

Synonyms

MC1DN26

Definition

A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA9 gene on chromosome 12p13.32. https://pubmed.ncbi.nlm.nih.gov/22114105/

References

OMIM:618247

Ontology

Human Disease ( DOID:0112086 )

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