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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:mitochondrial complex IV deficiency nuclear type 12
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Accession:DOID:0070498 term browser browse the term
Definition:A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the PET100 gene on chromosome 19p13.2. (DO)
Synonyms:exact_synonym: MC4DN12
 primary_id: MIM:619055
 alt_id: DOID:9006173

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mitochondrial complex IV deficiency nuclear type 12 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101966343 protein PET100 homolog, mitochondrial ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:24462369 PMID:25293719 PMID:25741868 More... NCBI chrNW_004936588:4,680,083...4,681,563
Ensembl chrNW_004936588:4,680,102...4,681,563 		JBrowse link
G Stxbp2 syntaxin binding protein 2 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12 ClinVar PMID:9536098 PMID:17576681 PMID:24462369 PMID:25293719 PMID:25741868 More... NCBI chrNW_004936588:4,688,221...4,696,075
Ensembl chrNW_004936588:4,687,834...4,696,146 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14501
    Nutritional and Metabolic Diseases 6812
      disease of metabolism 6812
        mitochondrial metabolism disease 775
          cytochrome-c oxidase deficiency disease 204
            COX deficiency, benign infantile mitochondrial myopathy 38
              mitochondrial complex IV deficiency nuclear type 12 2
Path 2
Term Annotations click to browse term
  disease 14501
    Developmental Disease 12602
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11795
        genetic disease 11474
          inherited metabolic disorder 5279
            mitochondrial metabolism disease 775
              cytochrome-c oxidase deficiency disease 204
                COX deficiency, benign infantile mitochondrial myopathy 38
                  mitochondrial complex IV deficiency nuclear type 12 2
paths to the root