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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 EXOSC1 on chromosome 10q24.1. (DO)
Synonyms:exact_synonym: PCH1F
 primary_id: OMIM:619304
 alt_id: DOID:9004539
For additional species annotation, visit the Alliance of Genome Resources.



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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...240,745,518
Ensembl chr 1:240,734,773...240,745,438
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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 1F 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 1F 1
paths to the root