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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 2
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Accession:DOID:9002077 term browser browse the term
Definition:An autosomal recessive disorder characterized by delayed psychomotor development, severe hypotonia with inability to walk, microcephaly, and abnormal signals in the basal ganglia. (OMIM)
Synonyms:exact_synonym: EMPF2
 primary_id: OMIM:617086
For additional species annotation, visit the Alliance of Genome Resources.



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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
ClinVar Annotator: match by term: Encephalopathy due to defective mitochondrial and peroxisomal fission 2
ClinVar
OMIM
PMID:22499341 PMID:25558065 PMID:25741868 PMID:26783368 PMID:32181496 NCBI chr 9:84,007,798...84,036,039
Ensembl chr 9:84,007,798...84,036,039
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17251
    Nutritional and Metabolic Diseases 5548
      disease of metabolism 5548
        mitochondrial metabolism disease 395
          Encephalopathy due to Defective Mitochondrial and Peroxisomal Fission 5
            Encephalopathy due to Defective Mitochondrial and Peroxisomal Fission 2 1
Path 2
Term Annotations click to browse term
  disease 17251
    disease of anatomical entity 16595
      nervous system disease 12130
        central nervous system disease 10402
          brain disease 9763
            Metabolic Brain Diseases 611
              Metabolic Brain Diseases, Inborn 540
                Encephalopathy due to Defective Mitochondrial and Peroxisomal Fission 5
                  Encephalopathy due to Defective Mitochondrial and Peroxisomal Fission 2 1
paths to the root