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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:0060994 term browser browse the term
Definition:A syndrome characterized by delayed psychomotor development, severe hypotonia with inability to walk, microcephaly, and abnormal signals in the basal ganglia that has_material_basis_in homozygous or compound heterozygous mutation in the MFF gene on chromosome 2q36. (DO)
Synonyms:exact_synonym: EMPF2;   Leigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome;   MFF-RELATED CONDITION;   MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect
 alt_id: DOID:9002077
 xref: MIM:617086;   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 | ClinVar Annotator: match by term: MFF-related condition OMIM
ClinVar		 PMID:22499341 PMID:25558065 PMID:25741868 PMID:26783368 PMID:28492532 More... NCBI chr 9:91,455,931...91,484,171
Ensembl chr 9:91,455,871...91,484,171 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    syndrome 11431
      Encephalopathy due to Defective Mitochondrial and Peroxisomal Fission 2
        encephalopathy due to defective mitochondrial and peroxisomal fission 2 1
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      nervous system disease 14369
        central nervous system disease 12646
          brain disease 11866
            Metabolic Brain Diseases 1519
              Metabolic Brain Diseases, Inborn 1388
                Encephalopathy due to Defective Mitochondrial and Peroxisomal Fission 2
                  encephalopathy due to defective mitochondrial and peroxisomal fission 2 1
paths to the root