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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 14 104,957,256 104,980,690 RGD:9068941
G DNM1L dynamin 1 like JBrowse link 5 41,571,054 41,636,058 RGD:7240710
RGD:9068941
G OSBPL7 oxysterol binding protein like 7 JBrowse link 12 24,059,128 24,075,102 RGD:9068941
G YARS2 tyrosyl-tRNA synthetase 2 JBrowse link 5 41,561,563 41,584,534 RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12016
    Nutritional and Metabolic Diseases 3326
      disease of metabolism 3326
        mitochondrial metabolism disease 308
          Lethal Encephalopathy due to Defective Mitochondrial and Peroxisomal Fission 1 4
Path 2
Term Annotations click to browse term
  disease 12016
    disease of anatomical entity 11623
      nervous system disease 9286
        central nervous system disease 7668
          brain disease 7052
            Metabolic Brain Diseases 462
              Metabolic Brain Diseases, Inborn 400
                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.