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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 MRPL44 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
For additional species annotation, visit the Alliance of Genome Resources.



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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 OMIM
ClinVar
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
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    Nutritional and Metabolic Diseases 6730
      disease of metabolism 6730
        mitochondrial metabolism disease 419
          combined oxidative phosphorylation deficiency 70
            combined oxidative phosphorylation deficiency 16 1
Path 2
Term Annotations click to browse term
  disease 18032
    Developmental Disease 12742
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11402
        genetic disease 10994
          monogenic disease 8513
            autosomal genetic disease 7518
              autosomal recessive disease 4575
                combined oxidative phosphorylation deficiency 16 1
paths to the root