nuclear type mitochondrial complex I deficiency 19

Term ID

DOID:0112085

Synonyms

MC1DN19

Definition

A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the FOXRED1 gene on chromosome 11q24.2. https://pubmed.ncbi.nlm.nih.gov/20818383/

References

OMIM:618241

Ontology

Human Disease ( DOID:0112085 )

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