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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 9
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Accession:DOID:0060278 term browser browse the term
Definition:A pontocerebellar hypoplasia that is characterized by progressive microcephaly, spasticity, seizure and brain atrophy, has_material_basis_in autosomal recessive inheritance of mutation in the AMPD2 gene. (DO)
Synonyms:exact_synonym: PCH9
 xref: MIM:615809;   MONDO:0014351;   ORDO:369920


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pontocerebellar hypoplasia type 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ampd2 adenosine monophosphate deaminase 2 ISO ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 9 OMIM
ClinVar		 PMID:23911318 PMID:25558065 PMID:25741868 PMID:27066553 PMID:28492532 More... NCBI chr 2:195,707,609...195,720,454
Ensembl chr 2:195,707,610...195,720,271 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19102
    disease of anatomical entity 18443
      nervous system disease 14336
        neurodegenerative disease 5008
          pontocerebellar hypoplasia 32
            pontocerebellar hypoplasia type 9 1
Path 2
Term Annotations click to browse term
  disease 19102
    disease of anatomical entity 18443
      nervous system disease 14336
        central nervous system disease 12608
          brain disease 11837
            cerebellar disease 1140
              pontocerebellar hypoplasia 32
                pontocerebellar hypoplasia type 9 1
paths to the root