nuclear type mitochondrial complex I deficiency 14

Term ID

DOID:0112094

Synonyms

MC1DN14

Definition

A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA11 gene on chromosome 19p13.3. https://pubmed.ncbi.nlm.nih.gov/18306244/

References

OMIM:618236

Ontology

Human Disease ( DOID:0112094 )

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