Metadata | |
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ID | DOID:0112088 |
Name | nuclear type mitochondrial complex I deficiency 21 |
Definition | A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NUBPL gene on chromosome 14q12. https://pubmed.ncbi.nlm.nih.gov/20818383/ |
Xrefs | |
Synonyms |
MC1DN21 [EXACT] |
Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |