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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:Encephalopathy due to Defective Mitochondrial and Peroxisomal Fission
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Accession:DOID:9009111 term browser browse the term


show annotations for term's descendants           Sort by:
encephalopathy due to defective mitochondrial and peroxisomal fission 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep55 centrosomal protein 55 ISO ClinVar Annotator: match by term: Encephalopathy due to defective mitochondrial and peroxisomal fission 1 ClinVar PMID:25741868 NCBI chr 1:235,832,823...235,848,401
Ensembl chr 1:235,832,878...235,848,394 		JBrowse link
G Dnm1l dynamin 1-like ISO ClinVar Annotator: match by term: Encephalopathy due to defective mitochondrial and peroxisomal fission 1 OMIM
ClinVar		 PMID:17460227 PMID:18414213 PMID:20696759 PMID:25326635 PMID:25741868 More... NCBI chr11:84,581,216...84,632,382
Ensembl chr11:84,581,216...84,631,482 		JBrowse link
G Osbpl7 oxysterol binding protein-like 7 ISO ClinVar Annotator: match by term: Encephalopathy due to defective mitochondrial and peroxisomal fission 1 ClinVar PMID:25741868 NCBI chr10:82,035,995...82,053,566
Ensembl chr10:82,036,042...82,053,557 		JBrowse link
G Yars2 tyrosyl-tRNA synthetase 2 ISO ClinVar Annotator: match by term: Encephalopathy due to defective mitochondrial and peroxisomal fission 1 ClinVar PMID:25741868 NCBI chr11:84,632,350...84,638,138
Ensembl chr11:84,624,369...84,638,125 		JBrowse link
Encephalopathy due to Defective Mitochondrial and Peroxisomal Fission 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mff mitochondrial fission factor ISO ClinVar Annotator: match by term: Encephalopathy due to defective mitochondrial and peroxisomal fission 2 OMIM
ClinVar		 PMID:22499341 PMID:25558065 PMID:25741868 PMID:26783368 PMID:28492532 More... NCBI chr 9:84,007,798...84,036,039
Ensembl chr 9:84,007,798...84,036,039 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19087
    Nutritional and Metabolic Diseases 8522
      disease of metabolism 8522
        mitochondrial metabolism disease 818
          Encephalopathy due to Defective Mitochondrial and Peroxisomal Fission 5
            Encephalopathy due to Defective Mitochondrial and Peroxisomal Fission 2 1
            encephalopathy due to defective mitochondrial and peroxisomal fission 1 4
Path 2
Term Annotations click to browse term
  disease 19087
    disease of anatomical entity 18376
      nervous system disease 14241
        central nervous system disease 12570
          brain disease 11791
            Metabolic Brain Diseases 1521
              Metabolic Brain Diseases, Inborn 1387
                Encephalopathy due to Defective Mitochondrial and Peroxisomal Fission 5
                  Encephalopathy due to Defective Mitochondrial and Peroxisomal Fission 2 1
                  encephalopathy due to defective mitochondrial and peroxisomal fission 1 4
paths to the root