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Summary Literature (0)
DOID:0112074 - nuclear type mitochondrial complex I deficiency 1


Disease Ontology Definition:A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS4 gene on chromosome 5q11.2.

Synonyms: MC1DN1,

Xenbase Genes : ndufv1, ndufs4, ndufb9, ndufs1, ndufv2, nubpl, ndufb3, ndufs2, ndufaf5, ndufs3, ndufaf3, ndufa11, ndufaf1, ndufa1, ndufs6, [+]



Other Model Organisms: Alliance, 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)