FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term mitochondrial complex IV deficiency nuclear type 7 ID (Ontology) DOID:0070494 (Human Disease)
Definition A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX6B1 gene on chromosome 19q13.12.
Also Known As "MC4DN7"
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 Genes
 mitochondrial complex IV deficiency nuclear type 7       1
 for disease ribbon | mitochondrial complex IV deficiency nuclear type 7       1
 model of | mitochondrial complex IV deficiency nuclear type 7       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease______________________________
cytochrome-c oxidase deficiency disease                      |
 |__COX deficiency, benign infantile mitochondrial myopathy__|
                                                             mitochondrial complex IV deficiency nuclear type 7  1 rec.
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Is a autosomal recessive disease
COX deficiency, benign infantile mitochondrial myopathy
Part of
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Synonyms
  • "MC4DN7" EXACT OMO:0003012
Secondary IDs
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MIM:619051
UMLS_CUI:C5436685