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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 1D
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Accession:DOID:0112323 term browser browse the term
Definition:A pontocerebellar hypoplasia type 1 characterized by severe hypotonia and motor neuronopathy detectable at birth or in infancy that has_material_basis_in homozygous or compound heterozygous mutation in EXOSC9 on chromosome 4q27. (DO)
Synonyms:exact_synonym: PCH1D
 primary_id: OMIM:618065
 alt_id: DOID:9009227
For additional species annotation, visit the Alliance of Genome Resources.



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pontocerebellar hypoplasia type 1D term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Exosc9 exosome component 9 ISO ClinVar Annotator: match by term: Pontocerebellar hypoplasia, type 1D OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:29727687 PMID:30125339 PMID:30690203 More... NCBI chr 2:119,416,028...119,426,981
Ensembl chr 2:119,388,715...119,427,051
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18154
    disease of anatomical entity 17529
      nervous system disease 13192
        neurodegenerative disease 3902
          pontocerebellar hypoplasia 29
            pontocerebellar hypoplasia type 1 16
              pontocerebellar hypoplasia type 1D 1
Path 2
Term Annotations click to browse term
  disease 18154
    disease of anatomical entity 17529
      nervous system disease 13192
        central nervous system disease 11323
          brain disease 10618
            cerebellar disease 776
              pontocerebellar hypoplasia 29
                pontocerebellar hypoplasia type 1 16
                  pontocerebellar hypoplasia type 1D 1
paths to the root