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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 19 38,054,970 38,074,425 RGD:8554872
G Dnm1l dynamin 1-like JBrowse link 16 16,312,228 16,359,038 RGD:7240710
RGD:8554872
G Osbpl7 oxysterol binding protein-like 7 JBrowse link 11 97,050,633 97,068,904 RGD:8554872
G Yars2 tyrosyl-tRNA synthetase 2 (mitochondrial) JBrowse link 16 16,302,965 16,309,640 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12617
    Nutritional and Metabolic Diseases 3526
      disease of metabolism 3526
        mitochondrial metabolism disease 335
          Lethal Encephalopathy due to Defective Mitochondrial and Peroxisomal Fission 1 4
Path 2
Term Annotations click to browse term
  disease 12617
    disease of anatomical entity 12180
      nervous system disease 9644
        central nervous system disease 7959
          brain disease 7328
            Metabolic Brain Diseases 492
              Metabolic Brain Diseases, Inborn 427
                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.