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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 V (ATP synthase) deficiency nuclear type 6
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Accession:DOID:0111749 term browser browse the term
Definition:A mitochondrial complex V (ATP synthase) deficiency characterized by episodic regression of gross motor skills beginning in early childhood that has_material_basis_in homozygous or compound heterozygous mutation in the ATP5MD gene on chromosome 10q24.33. (DO)
Synonyms:exact_synonym: MC5DN6;   mitochondrial complex V deficiency, nuclear type 6
 primary_id: OMIM:618683
 xref: EFO:0010656


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mitochondrial complex V (ATP synthase) deficiency nuclear type 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp5mk ATP synthase membrane subunit K ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 6 OMIM
ClinVar		 PMID:25741868 PMID:29917077 NCBI chr 1:245,973,910...245,980,702
Ensembl chr 1:245,973,914...245,980,761
Ensembl chr10:245,973,914...245,980,761 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Nutritional and Metabolic Diseases 8246
      disease of metabolism 8246
        mitochondrial metabolism disease 812
          mitochondrial complex V (ATP synthase) deficiency 21
            mitochondrial complex V (ATP synthase) deficiency nuclear type 6 1
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13418
        genetic disease 13036
          inherited metabolic disorder 6256
            mitochondrial metabolism disease 812
              mitochondrial complex V (ATP synthase) deficiency 21
                mitochondrial complex V (ATP synthase) deficiency nuclear type 6 1
paths to the root