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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 B3galnt2 beta-1,3-N-acetylgalactosaminyltransferase 2 ISO ClinVar Annotator: match by term: Encephalopathy, progressive, with amyotrophy and optic atrophy ClinVar PMID:25741868 NCBI chr17:51,334,921...51,377,469
Ensembl chr17:51,334,921...51,377,469
JBrowse link
G Tbce tubulin folding cofactor E ISO ClinVar Annotator: match by term: Encephalopathy, progressive, with amyotrophy and optic atrophy OMIM
ClinVar
PMID:25741868 PMID:27666369 PMID:34134906 NCBI chr17:51,290,143...51,336,090
Ensembl chr17:51,290,202...51,336,089
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18203
    disease of anatomical entity 17561
      nervous system disease 13192
        central nervous system disease 11332
          brain disease 10625
            Progressive Encephalopathy with Amyotrophy and Optic Atrophy 2
Path 2
Term Annotations click to browse term
  disease 18203
    disease of anatomical entity 17561
      nervous system disease 13192
        Neurologic Manifestations 9248
          sensory system disease 6476
            eye disease 2893
              optic nerve disease 287
                optic atrophy 179
                  Hereditary Optic Atrophies 73
                    Progressive Encephalopathy with Amyotrophy and Optic Atrophy 2
paths to the root