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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


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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 | ClinVar Annotator: match by term: Pontocerebellar hypoplasia with anterior horn cell disease 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 21128
    disease of anatomical entity 18212
      nervous system disease 14060
        neurodegenerative disease 4893
          pontocerebellar hypoplasia 32
            pontocerebellar hypoplasia type 1 18
              pontocerebellar hypoplasia type 1A 2
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      nervous system disease 14060
        central nervous system disease 12399
          brain disease 11634
            cerebellar disease 1131
              pontocerebellar hypoplasia 32
                pontocerebellar hypoplasia type 1 18
                  pontocerebellar hypoplasia type 1A 2
paths to the root