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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 93,496,612 93,529,094 RGD:8554872
G DNM1L dynamin 1 like JBrowse link 12 32,679,200 32,745,650 RGD:8554872
RGD:7240710
G OSBPL7 oxysterol binding protein like 7 JBrowse link 17 47,807,367 47,821,822 RGD:8554872
G YARS2 tyrosyl-tRNA synthetase 2 JBrowse link 12 32,725,247 32,756,458 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16490
    Nutritional and Metabolic Diseases 4550
      disease of metabolism 4550
        mitochondrial metabolism disease 350
          Lethal Encephalopathy due to Defective Mitochondrial and Peroxisomal Fission 1 4
Path 2
Term Annotations click to browse term
  disease 16490
    disease of anatomical entity 15415
      nervous system disease 11653
        central nervous system disease 9763
          brain disease 9037
            Metabolic Brain Diseases 518
              Metabolic Brain Diseases, Inborn 451
                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.