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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:POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS
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Accession:DOID:9008864 term browser browse the term
Synonyms:exact_synonym: PMGYCHA;   perisylvian polymicrogyria, cerebellar hypoplasia, and arthrogryposis
 primary_id: OMIM:616531;   RDO:9001520
For additional species annotation, visit the Alliance of Genome Resources.


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POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pi4ka phosphatidylinositol 4-kinase alpha ISO ClinVar Annotator: match by term: Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis ClinVar
OMIM
PMID:25741868 PMID:25855803 PMID:26752647 NCBI chr11:87,858,323...87,975,549
Ensembl chr11:87,858,453...87,973,422
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16122
    syndrome 7057
      Perisylvian Syndrome 4
        POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS 1
Path 2
Term Annotations click to browse term
  disease 16122
    Developmental Diseases 9597
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8441
        genetic disease 7944
          monogenic disease 5728
            autosomal genetic disease 4877
              autosomal dominant disease 3159
                complex cortical dysplasia with other brain malformations 716
                  Malformations of Cortical Development, Group III 20
                    Polymicrogyria 14
                      Perisylvian Syndrome 4
                        POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS 1
paths to the root