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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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: MIM:617207


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Progressive Encephalopathy with Amyotrophy and Optic Atrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2 ISO ClinVar Annotator: match by term: Encephalopathy, progressive, with amyotrophy and optic atrophy ClinVar PMID:25741868 NCBI chr 4:4,434,987...4,489,844
Ensembl chr 4:4,433,871...4,490,903 		JBrowse link
G TBCE tubulin folding cofactor E ISO ClinVar Annotator: match by term: Encephalopathy, progressive, with amyotrophy and optic atrophy OMIM
ClinVar		 PMID:12389028 PMID:20152369 PMID:25097779 PMID:25741868 PMID:26231322 More... NCBI chr 4:4,490,892...4,569,401
Ensembl chr 4:4,490,994...4,569,357 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15675
    sensory system disease 6898
      eye disease 3616
        optic nerve disease 369
          optic atrophy 190
            Progressive Encephalopathy with Amyotrophy and Optic Atrophy 2
Path 2
Term Annotations click to browse term
  disease 15675
    disease of anatomical entity 15318
      nervous system disease 13408
        Neurologic Manifestations 9869
          sensory system disease 6898
            eye disease 3616
              optic nerve disease 369
                optic atrophy 190
                  Hereditary Optic Atrophies 81
                    Progressive Encephalopathy with Amyotrophy and Optic Atrophy 2
paths to the root