ONTOLOGY REPORT - ANNOTATIONS


Term:Progressive Encephalopathy with Amyotrophy and Optic Atrophy
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Accession:DOID:9005242 term browser browse the term
Definition:A severe autosomal recessive neurodegenerative disorder characterized by delayed development with hypotonia apparent in infancy and subsequent motor regression. (OMIM)
Synonyms:exact_synonym: PEAMO
 primary_id: OMIM:617207
 alt_id: RDO:9001444
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Progressive Encephalopathy with Amyotrophy and Optic Atrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tbce tubulin folding cofactor E JBrowse link 17 53,983,126 54,029,028 RGD:8554872
RGD:7240710

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Path 1
Term Annotations click to browse term
  disease 14926
    disease of anatomical entity 14092
      nervous system disease 9154
        central nervous system disease 6950
          brain disease 6456
            Progressive Encephalopathy with Amyotrophy and Optic Atrophy 1
Path 2
Term Annotations click to browse term
  disease 14926
    disease of anatomical entity 14092
      nervous system disease 9154
        peripheral nervous system disease 2018
          neuropathy 1839
            cranial nerve disease 360
              optic nerve disease 189
                optic atrophy 91
                  Hereditary Optic Atrophies 57
                    Progressive Encephalopathy with Amyotrophy and Optic Atrophy 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.