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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 13
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Accession:DOID:0112332 term browser browse the term
Definition:A pontocerebellar hypoplasia characterized by global developmental delay, impaired intellectual development with absent speech, microcephaly, and progressive atrophy of the cerebellar vermis and brainstem that has_material_basis_in homozygous or compound heterozygous mutation in the VPS51 gene on chromosome 11q13.1. (DO)
Synonyms:exact_synonym: PCH13
 primary_id: OMIM:618606
 alt_id: DOID:9001590
 xref: EFO:0010636


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pontocerebellar hypoplasia type 13 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vps51 VPS51 subunit of GARP complex ISO ClinVar Annotator: match by term: Pontocerebellar hypoplasia, type 13 OMIM
ClinVar		 PMID:25741868 PMID:30624672 PMID:31207318 NCBI chr 1:203,360,434...203,370,422
Ensembl chr 1:203,360,440...203,370,430 		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 13 1
Path 2
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18309
        genetic disease 18253
          monogenic disease 10363
            autosomal genetic disease 9517
              autosomal recessive disease 6583
                pontocerebellar hypoplasia type 13 1
paths to the root