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DO Term : nuclear type mitochondrial complex I deficiency 18 [DOID:0112070] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF3 gene on chromosome 2p21.31.
  • synonyms:
  • OMIM:618240,
  • MC1DN18,
  • 618240
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents