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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 28 7,754,934 7,777,662 RGD:9068941
G DNM1L dynamin 1 like JBrowse link 27 16,161,855 16,211,983 RGD:7240710
RGD:9068941
G OSBPL7 oxysterol binding protein like 7 JBrowse link 9 24,139,641 24,156,692 RGD:9068941
G YARS2 tyrosyl-tRNA synthetase 2 JBrowse link 27 16,139,462 16,162,701 RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12065
    Nutritional and Metabolic Diseases 3364
      disease of metabolism 3364
        mitochondrial metabolism disease 307
          Lethal Encephalopathy due to Defective Mitochondrial and Peroxisomal Fission 1 4
Path 2
Term Annotations click to browse term
  disease 12065
    disease of anatomical entity 11668
      nervous system disease 9327
        central nervous system disease 7698
          brain disease 7089
            Metabolic Brain Diseases 464
              Metabolic Brain Diseases, Inborn 402
                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.