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ONTOLOGY REPORT - ANNOTATIONS


Term:encephalopathy due to defective mitochondrial and peroxisomal fission 1
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Accession:DOID:0070347 term browser browse the term
Definition:A syndrome that has_material_basis_in heterozygous mutation in the DNM1L gene, and is characterized by delayed psychomotor development and has_symptom hypotonia that may lead to death in childhood. (DO)
Synonyms:exact_synonym: EMPF;   EMPF1;   lethal encephalopathy due to defective mitochondrial and peroxisomal fission;   lethal encephalopathy due to defective mitochondrial and peroxisomal fission 1
 primary_id: OMIM:614388
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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 1 256,745,251 256,760,794 RGD:8554872
G Dnm1l dynamin 1-like JBrowse link 11 88,830,968 88,882,271 RGD:7240710
RGD:8554872
G Osbpl7 oxysterol binding protein-like 7 JBrowse link 10 84,986,330 85,003,947 RGD:8554872
G Yars2 tyrosyl-tRNA synthetase 2 JBrowse link 11 88,882,615 88,888,377 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15992
    syndrome 6097
      encephalopathy due to defective mitochondrial and peroxisomal fission 1 4
Path 2
Term Annotations click to browse term
  disease 15992
    disease of anatomical entity 15263
      nervous system disease 10756
        central nervous system disease 8844
          brain disease 8133
            Metabolic Brain Diseases 571
              Metabolic Brain Diseases, Inborn 501
                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.