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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: OMIM:PS614388
For additional species annotation, visit the Alliance of Genome Resources.


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 chr14:104,957,256...104,980,690
Ensembl chr14:104,957,311...104,987,638
JBrowse link
G FGD4 FYVE, RhoGEF and PH domain containing 4 ISO OMIM NCBI chr 5:41,571,054...41,636,058 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 chr12:24,059,128...24,075,102
Ensembl chr12:24,059,932...24,083,036
JBrowse link
G YARS2 tyrosyl-tRNA synthetase 2 ISO ClinVar Annotator: match by term: Encephalopathy, lethal, due to defective mitochondrial and peroxisomal fission
ClinVar Annotator: match by term: Encephalopathy due to defective mitochondrial and peroxisomal fission 1
ClinVar PMID:17460227 PMID:18414213 PMID:20696759 PMID:25741868 PMID:26604000 PMID:26931468 PMID:26992161 PMID:27145208 PMID:28492532 PMID:29877124 PMID:30850373 PMID:31587467 NCBI chr 5:41,561,563...41,584,534
Ensembl chr 5:41,561,626...41,584,818
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 OMIM NCBI chr15:128,768,441...128,799,355
Ensembl chr15:128,768,348...128,799,345
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13552
    Nutritional and Metabolic Diseases 4400
      disease of metabolism 4400
        mitochondrial metabolism disease 387
          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 13552
    disease of anatomical entity 13211
      nervous system disease 10982
        central nervous system disease 9611
          brain disease 9022
            Metabolic Brain Diseases 587
              Metabolic Brain Diseases, Inborn 523
                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