nuclear type mitochondrial complex I deficiency 13

Term ID

DOID:0112076

Synonyms

MC1DN13

Definition

A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA2 gene on chromosome 5q31.3. https://pubmed.ncbi.nlm.nih.gov/18513682/

References

OMIM:618235

Ontology

Human Disease ( DOID:0112076 )

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