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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 weeks of birth that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A46 gene on chromosome 5q22.1. (DO)
Synonyms:exact_synonym: PCH1E
 primary_id: MIM:619303
 alt_id: DOID:9005567


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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:9536098 PMID:16199547 PMID:17576681 PMID:25741868 More... NCBI chr18:23,490,422...23,519,599
Ensembl chr18:23,490,425...23,518,730 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      nervous system disease 14369
        neurodegenerative disease 5086
          pontocerebellar hypoplasia 33
            pontocerebellar hypoplasia type 1 18
              pontocerebellar hypoplasia type 1E 1
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      nervous system disease 14369
        central nervous system disease 12646
          brain disease 11866
            cerebellar disease 1147
              pontocerebellar hypoplasia 33
                pontocerebellar hypoplasia type 1 18
                  pontocerebellar hypoplasia type 1E 1
paths to the root