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Metadata
ID DOID:0112070
Name nuclear type mitochondrial complex I deficiency 18
Definition 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.
https://pubmed.ncbi.nlm.nih.gov/19463981/
Xrefs

MIM:618240

Synonyms

MC1DN18 [EXACT]

Parent Relationships

is_a nuclear type mitochondrial complex I deficiency

is_a autosomal recessive disease

Subclass Logical Relationships

has material basis in some autosomal recessive inheritance

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