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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


show annotations for term's descendants           Sort by:
pontocerebellar hypoplasia type 2D term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cln5 CLN5, intracellular trafficking protein ISO ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 2D ClinVar PMID:25741868 NCBI chr15:79,893,573...79,903,438
Ensembl chr15:79,893,548...79,903,438 		JBrowse link
G Pcca propionyl-CoA carboxylase subunit alpha ISO ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 2D ClinVar PMID:22156789 PMID:25741868 PMID:28492532 PMID:30274917 PMID:30705822 NCBI chr15:99,627,955...99,969,555
Ensembl chr15:99,627,982...99,968,266 		JBrowse link
G Sepsecs Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 2D		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:12920088 PMID:16199547 PMID:17576681 PMID:18414213 More... NCBI chr14:58,311,484...58,341,745
Ensembl chr14:58,311,499...58,341,740 		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 14090
        neurodegenerative disease 4902
          pontocerebellar hypoplasia 32
            pontocerebellar hypoplasia type 2 8
              pontocerebellar hypoplasia type 2D 3
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14090
        central nervous system disease 12430
          brain disease 11668
            cerebellar disease 1134
              pontocerebellar hypoplasia 32
                pontocerebellar hypoplasia type 2 8
                  pontocerebellar hypoplasia type 2D 3
paths to the root