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Encephalopathy due to Defective Mitochondrial and Peroxisomal Fission - Ontology Report - Rat Genome Database

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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
Synonyms:xref: MIM:PS614388


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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 IAGP ClinVar Annotator: match by term: Encephalopathy due to defective mitochondrial and peroxisomal fission 1 ClinVar PMID:25741868 NCBI chr10:93,496,612...93,529,092
Ensembl chr10:93,496,612...93,529,092
JBrowse link
G DNM1L dynamin 1 like IAGP ClinVar Annotator: match by term: Encephalopathy due to defective mitochondrial and peroxisomal fission 1
ClinVar Annotator: match by term: DNM1L-related condition | ClinVar Annotator: match by term: Encephalopathy due to defective mitochondrial and peroxisomal fission 1
ClinVar
OMIM
PMID:9536098 PMID:12618434 PMID:17460227 PMID:17576681 PMID:18414213 More... NCBI chr12:32,679,301...32,745,650
Ensembl chr12:32,679,200...32,745,650
JBrowse link
G OSBPL7 oxysterol binding protein like 7 IAGP ClinVar Annotator: match by term: Encephalopathy due to defective mitochondrial and peroxisomal fission 1 ClinVar PMID:25741868 NCBI chr17:47,807,372...47,821,794
Ensembl chr17:47,807,372...47,821,803
JBrowse link
G YARS2 tyrosyl-tRNA synthetase 2 IAGP ClinVar Annotator: match by term: Encephalopathy due to defective mitochondrial and peroxisomal fission 1 ClinVar PMID:25741868 NCBI chr12:32,746,544...32,755,897
Ensembl chr12:32,727,490...32,755,897
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 IAGP ClinVar Annotator: match by term: Encephalopathy due to defective mitochondrial and peroxisomal fission 2
ClinVar Annotator: match by term: Encephalopathy due to defective mitochondrial and peroxisomal fission 2 | ClinVar Annotator: match by term: MFF-related condition
ClinVar
OMIM
PMID:22499341 PMID:25558065 PMID:25741868 PMID:26783368 PMID:28492532 More... NCBI chr 2:227,325,251...227,357,836
Ensembl chr 2:227,325,151...227,357,833
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 112207
    syndrome 38257
      Encephalopathy due to Defective Mitochondrial and Peroxisomal Fission 5
        encephalopathy due to defective mitochondrial and peroxisomal fission 1 4
        encephalopathy due to defective mitochondrial and peroxisomal fission 2 1
Path 2
Term Annotations click to browse term
  disease 112207
    disease of anatomical entity 104973
      nervous system disease 56427
        central nervous system disease 39993
          brain disease 37615
            Metabolic Brain Diseases 1889
              Metabolic Brain Diseases, Inborn 1719
                Encephalopathy due to Defective Mitochondrial and Peroxisomal Fission 5
                  encephalopathy due to defective mitochondrial and peroxisomal fission 1 4
                  encephalopathy due to defective mitochondrial and peroxisomal fission 2 1
paths to the root