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DOID:0112096 - nuclear type mitochondrial complex I deficiency 16
Disease Ontology Definition:A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF5 gene on chromosome 20p12.1.
Synonyms: MC1DN16,
Echinobase Genes :
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal recessive disease (is_a),
nuclear type mitochondrial complex I deficiency (is_a)