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ONTOLOGY REPORT - ANNOTATIONS


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;   RDO:9001442
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 JBrowse Chr Start Stop Reference
G Mff mitochondrial fission factor JBrowse link 9 88,490,280 88,518,517 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15603
    Nutritional and Metabolic Diseases 4390
      disease of metabolism 4390
        mitochondrial metabolism disease 308
          ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 2 1
Path 2
Term Annotations click to browse term
  disease 15603
    disease of anatomical entity 14934
      nervous system disease 10239
        central nervous system disease 8117
          brain disease 7586
            Metabolic Brain Diseases 475
              Metabolic Brain Diseases, Inborn 409
                ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 2 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.