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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 1F
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Accession:DOID:0112331 term browser browse the term
Definition:A pontocerebellar hypoplasia type 1 characterized by hypotonia, global developmental delay, poor overall growth, and dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the EXOSC1 gene on chromosome 10q24.1. (DO)
Synonyms:exact_synonym: PCH1F
 primary_id: OMIM:619304
 alt_id: DOID:9004539


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pontocerebellar hypoplasia type 1F term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Exosc1 exosome component 1 ISO ClinVar Annotator: match by term: Pontocerebellar hypoplasia, type 1F OMIM
ClinVar		 PMID:33463720 NCBI chr 1:240,734,777...240,745,431
Ensembl chr 1:240,734,773...240,745,438 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        neurodegenerative disease 4906
          pontocerebellar hypoplasia 32
            pontocerebellar hypoplasia type 1 18
              pontocerebellar hypoplasia type 1F 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        central nervous system disease 12432
          brain disease 11669
            cerebellar disease 1134
              pontocerebellar hypoplasia 32
                pontocerebellar hypoplasia type 1 18
                  pontocerebellar hypoplasia type 1F 1
paths to the root