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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 10 93,750,177 93,784,890 RGD:9068941
G DNM1L dynamin 1 like JBrowse link 12 56,077,504 56,142,376 RGD:7240710
RGD:9068941
G OSBPL7 oxysterol binding protein like 7 JBrowse link 17 9,897,612 9,912,065 RGD:9068941
G YARS2 tyrosyl-tRNA synthetase 2 JBrowse link 12 56,065,505 56,076,026 RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11912
    Nutritional and Metabolic Diseases 3249
      disease of metabolism 3249
        mitochondrial metabolism disease 292
          Lethal Encephalopathy due to Defective Mitochondrial and Peroxisomal Fission 1 4
Path 2
Term Annotations click to browse term
  disease 11912
    disease of anatomical entity 11517
      nervous system disease 9218
        central nervous system disease 7621
          brain disease 7013
            Metabolic Brain Diseases 450
              Metabolic Brain Diseases, Inborn 387
                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.