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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 4A
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Accession:DOID:0070461 term browser browse the term
Definition:A mitochondrial complex V (ATP synthase) deficiency nuclear type 4 characterized by infantile onset of poor feeding and failure to thrive that may resolve spontaneously or progress to include developmental delay with impaired intellectual development and movement abnormalities that has_material_basis_in autosomal dominant inheritance. (DO)
Synonyms:exact_synonym: MC5DN4A
 primary_id: OMIM:620358
 xref: MONDO:0957254


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mitochondrial complex V (ATP synthase) deficiency nuclear type 4A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp5f1a ATP synthase F1 subunit alpha ISO ClinVar Annotator: match by term: Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A OMIM
ClinVar		 PMID:25741868 PMID:25741909 PMID:28492532 PMID:34483339 PMID:34954817 NCBI chr18:71,292,406...71,300,342
Ensembl chr18:71,292,374...71,300,794 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Nutritional and Metabolic Diseases 8237
      disease of metabolism 8237
        mitochondrial metabolism disease 813
          mitochondrial complex V (ATP synthase) deficiency 21
            mitochondrial complex V (ATP synthase) deficiency nuclear type 4 1
              mitochondrial complex V (ATP synthase) deficiency nuclear type 4A 1
Path 2
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18309
        genetic disease 18253
          inherited metabolic disorder 6214
            mitochondrial metabolism disease 813
              mitochondrial complex V (ATP synthase) deficiency 21
                mitochondrial complex V (ATP synthase) deficiency nuclear type 4 1
                  mitochondrial complex V (ATP synthase) deficiency nuclear type 4A 1
paths to the root