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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 2D
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Accession:DOID:0060270 term browser browse the term
Definition:A pontocerebellar hypoplasia that is characterized by progressive microcephaly, profound intellectual disability, spasticity and seizure, has_material_basis_in autosomal recessive inheritance of mutation in the SEPSECS gene. (DO)
Synonyms:exact_synonym: CEREBELLOCEREBRAL ATROPHY, PROGRESSIVE;   PCCA;   PCH2D
 primary_id: OMIM:613811
 xref: ORDO:2524
For additional species annotation, visit the Alliance of Genome Resources.



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pontocerebellar hypoplasia type 2D term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sepsecs Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase ISO ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 2D OMIM
ClinVar
PMID:12920088 PMID:16199547 PMID:18414213 PMID:20920667 PMID:23052947 More... NCBI chr14:58,311,484...58,341,745
Ensembl chr14:58,311,499...58,341,740
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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 2 6
              pontocerebellar hypoplasia type 2D 1
Path 2
Term Annotations click to browse term
  disease 18156
    disease of anatomical entity 17531
      nervous system disease 13193
        central nervous system disease 11323
          brain disease 10618
            cerebellar disease 776
              pontocerebellar hypoplasia 29
                pontocerebellar hypoplasia type 2 6
                  pontocerebellar hypoplasia type 2D 1
paths to the root