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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 1A
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Accession:DOID:0060265 term browser browse the term
Definition:A pontocerebellar hypoplasia that is characterized by central and peripheral motor dysfunction, hypotonia, spasticity and failure to thrive, has_material_basis_in homozygous or compound heterozygous mutation in the VRK1 gene. (DO)
Synonyms:exact_synonym: PCH1A;   pontocerebellar hypoplasia with anterior horn cell disease;   pontocerebellar hypoplasia with infantile spinal muscular atrophy
 broad_synonym: CONGENITAL PONTOCEREBELLAR HYPOPLASIA TYPE 1
 related_synonym: DISTAL HEREDITARY MOTOR NEUROPATHY ASSOCIATED WITH UPPER MOTOR NEURON SIGNS
 primary_id: OMIM:607596
 xref: ORDO:2254
For additional species annotation, visit the Alliance of Genome Resources.



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pontocerebellar hypoplasia type 1A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chmp1a charged multivesicular body protein 1A ISO ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 1A ClinVar PMID:25741868 NCBI chr19:51,238,153...51,246,433
Ensembl chr19:51,238,160...51,246,436
JBrowse link
G Vrk1 VRK serine/threonine kinase 1 ISO ClinVar Annotator: match by term: Congenital pontocerebellar hypoplasia type 1 | ClinVar Annotator: match by term: Distal hereditary motor neuropathy associated with upper motor neuron signs | ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 1A OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:19646678 More... NCBI chr 6:124,914,770...124,981,508
Ensembl chr 6:124,914,855...124,981,436
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18154
    disease of anatomical entity 17529
      nervous system disease 13192
        neurodegenerative disease 3902
          pontocerebellar hypoplasia 29
            pontocerebellar hypoplasia type 1 16
              pontocerebellar hypoplasia type 1A 2
Path 2
Term Annotations click to browse term
  disease 18154
    disease of anatomical entity 17529
      nervous system disease 13192
        central nervous system disease 11323
          brain disease 10618
            cerebellar disease 776
              pontocerebellar hypoplasia 29
                pontocerebellar hypoplasia type 1 16
                  pontocerebellar hypoplasia type 1A 2
paths to the root