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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:HYPERMETABOLISM DUE TO UNCOUPLED MITOCHONDRIAL OXIDATIVE PHOSPHORYLATION 2
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Accession:DOID:9000188 term browser browse the term
Definition:A disease characterized by failure to thrive apparent in infancy despite adequate caloric intake. Caused by heterozygous mutation in the ATP5F1B gene on chromosome 12q13.
Synonyms:exact_synonym: HUMOP2
 broad_synonym: HYPERMETABOLISM DUE TO DEFECT IN MITOCHONDRIAL COUPLING
 xref: MIM:620085;   MONDO:0859302


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HYPERMETABOLISM DUE TO UNCOUPLED MITOCHONDRIAL OXIDATIVE PHOSPHORYLATION 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp5f1b ATP synthase F1 subunit beta ISO ClinVar Annotator: match by term: Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2 OMIM
ClinVar		 PMID:36239646 NCBI chr 7:515,454...521,858
Ensembl chr 7:1,099,860...1,106,462 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    Nutritional and Metabolic Diseases 8574
      disease of metabolism 8574
        mitochondrial metabolism disease 836
          HYPERMETABOLISM DUE TO UNCOUPLED MITOCHONDRIAL OXIDATIVE PHOSPHORYLATION 2 1
Path 2
Term Annotations click to browse term
  disease 19167
    Developmental Disease 14720
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13780
        genetic disease 13401
          inherited metabolic disorder 6673
            mitochondrial metabolism disease 836
              HYPERMETABOLISM DUE TO UNCOUPLED MITOCHONDRIAL OXIDATIVE PHOSPHORYLATION 2 1
paths to the root