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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)