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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 12
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Accession:DOID:0112327 term browser browse the term
Definition:A pontocerebellar hypoplasia that has_material_basis_in homozygous or compound heterozygous mutation in the COASY gene on chromosome 17q21.2. (DO)
Synonyms:exact_synonym: COASY-related pontocerebellar hypoplasia;   PCH12
 broad_synonym: COASY-RELATED CONDITION
 primary_id: OMIM:618266
 alt_id: DOID:9004840
 xref: ORDO:611256


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pontocerebellar hypoplasia type 12 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Coasy Coenzyme A synthase ISO ClinVar Annotator: match by term: COASY-related condition | ClinVar Annotator: match by term: Pontocerebellar hypoplasia, type 12 OMIM
ClinVar		 PMID:16199547 PMID:24360804 PMID:25741868 PMID:28492532 PMID:30089828 More... NCBI chr10:86,014,566...86,018,849
Ensembl chr10:86,014,597...86,018,841 		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 12 1
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13418
        genetic disease 13036
          monogenic disease 10421
            autosomal genetic disease 9578
              autosomal recessive disease 6657
                pontocerebellar hypoplasia type 12 1
paths to the root