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Metadata
ID DOID:0112084
Name nuclear type mitochondrial complex I deficiency 29
Definition A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM126B gene on chromosome 11q14.1.
https://pubmed.ncbi.nlm.nih.gov/27374773/
Xrefs

MIM:618250

Synonyms

MC1DN29 [EXACT]

Parent Relationships

is_a autosomal recessive disease

is_a nuclear type mitochondrial complex I deficiency

Subclass Logical Relationships

has material basis in some autosomal recessive inheritance

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