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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: OMIM:617207
 alt_id: RDO:9001444
For additional species annotation, visit the Alliance of Genome Resources.



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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 Tbce tubulin folding cofactor E ISO ClinVar Annotator: match by term: ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY
ClinVar Annotator: match by term: Encephalopathy, progressive, with amyotrophy and optic atrophy
ClinVar
OMIM
PMID:25741868 PMID:27666369 NCBI chr17:51,290,143...51,336,090
Ensembl chr17:51,290,202...51,336,089
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17251
    disease of anatomical entity 16595
      nervous system disease 12130
        central nervous system disease 10402
          brain disease 9763
            Progressive Encephalopathy with Amyotrophy and Optic Atrophy 1
Path 2
Term Annotations click to browse term
  disease 17251
    disease of anatomical entity 16595
      nervous system disease 12130
        peripheral nervous system disease 2557
          neuropathy 2354
            cranial nerve disease 484
              optic nerve disease 270
                optic atrophy 165
                  Hereditary Optic Atrophies 64
                    Progressive Encephalopathy with Amyotrophy and Optic Atrophy 1
paths to the root