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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:pontocerebellar hypoplasia type 1E
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Accession:DOID:0112330 term browser browse the term
Definition:A pontocerebellar hypoplasia type 1 characterized by onset shortly after birth of severe hypotonia and respiratory insufficiency with most patients dying within a weeks of birth that has_material_basis_in homozygous or compound heterozygous mutation in SLC25A46 on chromosome 5q22.1. (DO)
Synonyms:exact_synonym: PCH1E
 primary_id: OMIM:619303
 alt_id: DOID:9005567
For additional species annotation, visit the Alliance of Genome Resources.


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pontocerebellar hypoplasia type 1E term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc25a46 solute carrier family 25, member 46 ISO ClinVar Annotator: match by term: Pontocerebellar hypoplasia, type 1E OMIM
ClinVar		 PMID:8147499 PMID:16199547 PMID:25741868 PMID:26168012 PMID:26951855 More... NCBI chr18:23,215,954...23,244,917
Ensembl chr18:23,215,962...23,244,314 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    disease of anatomical entity 17410
      nervous system disease 13079
        neurodegenerative disease 3871
          pontocerebellar hypoplasia 28
            pontocerebellar hypoplasia type 1 16
              pontocerebellar hypoplasia type 1E 1
Path 2
Term Annotations click to browse term
  disease 18030
    disease of anatomical entity 17410
      nervous system disease 13079
        central nervous system disease 11253
          brain disease 10538
            cerebellar disease 768
              pontocerebellar hypoplasia 28
                pontocerebellar hypoplasia type 1 16
                  pontocerebellar hypoplasia type 1E 1
paths to the root