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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 16
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Accession:DOID:0111469 term browser browse the term
Definition:A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compund heterozygous mutation in the MRPL44 gene on chromosome 2q36.1. (DO)
Synonyms:exact_synonym: COXPD16;   infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
 primary_id: OMIM:615395
 xref: GARD:12892;   ORDO:352563


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combined oxidative phosphorylation deficiency 16 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mrpl44 mitochondrial ribosomal protein L44 ISO ClinVar Annotator: match by term: Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:23315540 PMID:25326637 PMID:25741868 PMID:25797485 PMID:26001801 More... NCBI chr 9:81,106,658...81,111,709
Ensembl chr 9:81,106,655...81,112,812 		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
          combined oxidative phosphorylation deficiency 72
            combined oxidative phosphorylation deficiency 16 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
          monogenic disease 10421
            autosomal genetic disease 9578
              autosomal recessive disease 6657
                combined oxidative phosphorylation deficiency 16 1
paths to the root