nuclear type mitochondrial complex I deficiency 1

Summary

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 Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

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

MIM:

MIM:252010 - MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 1; MC1DN1

MIM:252010 - MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 1; MC1DN1

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)