"A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NUBPL on chromosome 14q12."^^ . _:vb50946057 . _:vb50946057 . "MC1DN21"^^ . "disease_ontology"^^ . . . . "DOID:0112088"^^ . "nuclear type mitochondrial complex I deficiency 21"^^ . _:vb50946057 . _:vb50946057 . _:vb50946057 . . "OMIM:618242"^^ .