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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 SFXN4 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
For additional species annotation, visit the Alliance of Genome Resources.


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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 OMIM:615578
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 18
OMIM
ClinVar
PMID:24119684, PMID:25741868 NCBI chr 1:282,213,610...282,236,851
Ensembl chr 1:282,213,675...282,235,974
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    Nutritional and Metabolic Diseases 4720
      disease of metabolism 4720
        mitochondrial metabolism disease 333
          combined oxidative phosphorylation deficiency 52
            combined oxidative phosphorylation deficiency 18 1
Path 2
Term Annotations click to browse term
  disease 16103
    Developmental Diseases 9506
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8364
        genetic disease 7847
          monogenic disease 5622
            autosomal genetic disease 4625
              autosomal recessive disease 2502
                combined oxidative phosphorylation deficiency 18 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.