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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 11
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Accession:DOID:0112324 term browser browse the term
Definition:A pontocerebellar hypoplasia characterized by severely delayed psychomotor development with intellectual disability and poor speech, microcephaly, dysmorphic features, and pontocerebellar hypoplasia on brain imaging that has_material_basis_in homozygous or compound heterozygous mutation in the TBC1D23 gene on chromosome 3q12.1-q12.2. (DO)
Synonyms:exact_synonym: PCH11
 alt_id: DOID:9003995
 xref: MONDO:0054669;   OMIM:617695;   ORDO:611247


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pontocerebellar hypoplasia type 11 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbc1d23 TBC1 domain family, member 23 ISO ClinVar Annotator: match by term: Pontocerebellar hypoplasia, type 11 OMIM
ClinVar		 PMID:25741868 PMID:28823706 PMID:28823707 NCBI chr11:43,303,355...43,361,507
Ensembl chr11:43,303,355...43,361,503 		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 11 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 11 1
paths to the root