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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 VPS51 on chromosome 11q13.1. (DO)
Synonyms:exact_synonym: PCH13
 primary_id: OMIM:618606
 alt_id: DOID:9001590
For additional species annotation, visit the Alliance of Genome Resources.



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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...203,370,295
Ensembl chr 1:203,360,440...203,370,430
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18156
    disease of anatomical entity 17531
      nervous system disease 13193
        neurodegenerative disease 3902
          pontocerebellar hypoplasia 29
            pontocerebellar hypoplasia type 13 1
Path 2
Term Annotations click to browse term
  disease 18156
    Developmental Disease 12940
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11670
        genetic disease 11174
          monogenic disease 8709
            autosomal genetic disease 7745
              autosomal recessive disease 4832
                pontocerebellar hypoplasia type 13 1
paths to the root