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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 14
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Accession:DOID:0112325 term browser browse the term
Definition:A pontocerebellar hypoplasia characterized by congenital onset of progressive microcephaly, poor or absent psychomotor development, and severely impaired intellectual development that has_material_basis_in homozygous or compound heterozygous mutation in the PPIL1 gene on chromosome 6p21.2. (DO)
Synonyms:exact_synonym: PCH14
 primary_id: MIM:619301
 alt_id: DOID:9001507


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pontocerebellar hypoplasia type 14 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ppil1 peptidylprolyl isomerase like 1 ISO
ISS 		ClinVar Annotator: match by term: Pontocerebellar hypoplasia, type 14
OMIM:619301 		OMIM
ClinVar
MouseDO		 PMID:24033266 PMID:25741868 PMID:33220177 NCBI chr20:7,303,919...7,323,962
Ensembl chr20:7,303,922...7,318,781 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19150
    disease of anatomical entity 18459
      nervous system disease 14371
        neurodegenerative disease 5087
          pontocerebellar hypoplasia 33
            pontocerebellar hypoplasia type 14 1
Path 2
Term Annotations click to browse term
  disease 19150
    Developmental Disease 14695
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13757
        genetic disease 13375
          monogenic disease 10875
            autosomal genetic disease 10343
              autosomal recessive disease 7133
                pontocerebellar hypoplasia type 14 1
paths to the root