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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;   Leigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome;   MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect
 primary_id: OMIM:617086
 xref: MONDO:0014905;   ORDO:485421


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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 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 21086
    Nutritional and Metabolic Diseases 8107
      disease of metabolism 8103
        mitochondrial metabolism disease 813
          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 21086
    disease of anatomical entity 18146
      nervous system disease 13993
        central nervous system disease 12287
          brain disease 11534
            Metabolic Brain Diseases 1464
              Metabolic Brain Diseases, Inborn 1331
                Encephalopathy due to Defective Mitochondrial and Peroxisomal Fission 5
                  Encephalopathy due to Defective Mitochondrial and Peroxisomal Fission 2 1
paths to the root