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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 1C
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Accession:DOID:0112334 term browser browse the term
Definition:A pontocerebellar hypoplasia type 1 characterized by severe muscle weakness and failure to thrive apparent in the first months of life that has_material_basis_in homozygous or compound heterozygous mutation in the EXOSC8 gene on chromosome 13q13.3. (DO)
Synonyms:exact_synonym: HYPOMYELINATION WITH SPINAL MUSCULAR ATROPHY AND CEREBELLAR HYPOPLASIA;   PCH1C
 primary_id: OMIM:616081
 alt_id: DOID:9006688


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pontocerebellar hypoplasia type 1C term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Exosc8 exosome component 8 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Pontocerebellar hypoplasia, type 1C		 OMIM
CTD
ClinVar		 PMID:24989451 PMID:25741868 PMID:25741909 PMID:28492532 NCBI chr 2:138,930,405...138,937,009
Ensembl chr 2:138,930,405...138,936,928 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        neurodegenerative disease 4894
          pontocerebellar hypoplasia 32
            pontocerebellar hypoplasia type 1 18
              pontocerebellar hypoplasia type 1C 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        central nervous system disease 12398
          brain disease 11633
            cerebellar disease 1131
              pontocerebellar hypoplasia 32
                pontocerebellar hypoplasia type 1 18
                  pontocerebellar hypoplasia type 1C 1
paths to the root