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ONTOLOGY REPORT - ANNOTATIONS


Term:Lethal Encephalopathy due to Defective Mitochondrial and Peroxisomal Fission 1
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Accession:DOID:9006270 term browser browse the term
Definition:An autosomal dominant disorder characterized by delayed psychomotor development and hypotonia that may lead to death in childhood. (OMIM)
Synonyms:exact_synonym: EMPF;   EMPF1;   ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 1;   lethal encephalopathy due to defective mitochondrial and peroxisomal fission
 primary_id: OMIM:614388
 alt_id: RDO:9000287
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Lethal Encephalopathy due to Defective Mitochondrial and Peroxisomal Fission 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cep55 centrosomal protein 55 JBrowse link 1 256,745,251 256,760,794 RGD:8554872
G Dnm1l dynamin 1-like JBrowse link 11 88,830,968 88,882,271 RGD:7240710
RGD:8554872
G Osbpl7 oxysterol binding protein-like 7 JBrowse link 10 84,986,330 85,003,947 RGD:8554872
G Yars2 tyrosyl-tRNA synthetase 2 JBrowse link 11 88,882,615 88,888,377 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15553
    Nutritional and Metabolic Diseases 4392
      disease of metabolism 4392
        mitochondrial metabolism disease 310
          Lethal Encephalopathy due to Defective Mitochondrial and Peroxisomal Fission 1 4
Path 2
Term Annotations click to browse term
  disease 15553
    disease of anatomical entity 14837
      nervous system disease 10167
        central nervous system disease 8267
          brain disease 7613
            Metabolic Brain Diseases 477
              Metabolic Brain Diseases, Inborn 411
                Lethal Encephalopathy due to Defective Mitochondrial and Peroxisomal Fission 1 4
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.