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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:combined oxidative phosphorylation deficiency 18
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Accession:DOID:0111484 term browser browse the term
Definition:A combined oxidative phosphorylation deficiency characterized by intrauterine growth retardation, hypotonia, visual impairment, speech delay, and lactic acidosis that has_material_basis_in homozygous or compound heterozygous mutation in the SFXN4 gene on chromosome 10q26.11. (DO)
Synonyms:exact_synonym: COXPD18;   growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome
 primary_id: OMIM:615578
 xref: ORDO:391348


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combined oxidative phosphorylation deficiency 18 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SFXN4 sideroflexin 4 ISO ClinVar Annotator: match by term: Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome OMIM
ClinVar		 PMID:16199547 PMID:24119684 PMID:25741868 PMID:28492532 NCBI chr14:129,047,831...129,075,798
Ensembl chr14:129,032,076...129,075,484 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17412
    Nutritional and Metabolic Diseases 7080
      disease of metabolism 7080
        mitochondrial metabolism disease 798
          combined oxidative phosphorylation deficiency 72
            combined oxidative phosphorylation deficiency 18 1
Path 2
Term Annotations click to browse term
  disease 17412
    Developmental Disease 17260
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17174
        genetic disease 17155
          monogenic disease 9978
            autosomal genetic disease 9202
              autosomal recessive disease 6386
                combined oxidative phosphorylation deficiency 18 1
paths to the root