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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 NW_004955507 2,384 25,105 RGD:9068941
G Dnm1l dynamin 1 like JBrowse link NW_004955505 3,025,742 3,081,491 RGD:7240710
RGD:9068941
G Osbpl7 oxysterol binding protein like 7 JBrowse link NW_004955451 13,289,938 13,301,243 RGD:9068941
G Yars2 tyrosyl-tRNA synthetase 2 JBrowse link NW_004955505 3,004,084 3,011,003 RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11284
    Nutritional and Metabolic Diseases 3133
      disease of metabolism 3133
        mitochondrial metabolism disease 294
          Lethal Encephalopathy due to Defective Mitochondrial and Peroxisomal Fission 1 4
Path 2
Term Annotations click to browse term
  disease 11284
    disease of anatomical entity 10903
      nervous system disease 8727
        central nervous system disease 7210
          brain disease 6618
            Metabolic Brain Diseases 435
              Metabolic Brain Diseases, Inborn 373
                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.