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ONTOLOGY REPORT - ANNOTATIONS


Term:autosomal recessive progressive external ophthalmoplegia 1
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Accession:DOID:0111522 term browser browse the term
Definition:A chronic progressive external ophthalmoplegia that has_material_basis_in homozygous or compound heterozygous mutation in POLG on chromosome 15q26.1. (DO)
Synonyms:exact_synonym: PEOB1;   progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 1
 primary_id: OMIM:258450
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autosomal recessive progressive external ophthalmoplegia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Polg DNA polymerase gamma, catalytic subunit JBrowse link 1 141,172,117 141,188,893 RGD:7240710
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 15502
    Developmental Diseases 8872
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7669
        genetic disease 7157
          monogenic disease 4798
            autosomal genetic disease 3774
              autosomal recessive disease 2155
                Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive 6
                  autosomal recessive progressive external ophthalmoplegia 1 1
Path 2
Term Annotations click to browse term
  disease 15502
    disease of anatomical entity 14856
      nervous system disease 10270
        peripheral nervous system disease 2170
          neuropathy 1995
            neuromuscular disease 1565
              muscular disease 1006
                muscle tissue disease 694
                  myopathy 559
                    mitochondrial myopathy 81
                      chronic progressive external ophthalmoplegia 26
                        Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive 6
                          autosomal recessive progressive external ophthalmoplegia 1 1
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