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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: NEDSPLB;   PMGYCHA;   neurodevelopmental disorder with spasticity, hypomyelinating leukodystrophy, and brain abnormalities;   perisylvian polymicrogyria, cerebellar hypoplasia, and arthrogryposis
 primary_id: OMIM:616531
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 OMIM
ClinVar
PMID:25741868 PMID:25855803 PMID:26752647 PMID:28492532 PMID:34415310 NCBI chr11:83,609,136...83,726,876
Ensembl chr11:83,609,069...83,724,080
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18109
    syndrome 9634
      bilateral perisylvian polymicrogyria 4
        POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS 1
Path 2
Term Annotations click to browse term
  disease 18109
    Developmental Disease 12858
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11550
        genetic disease 11085
          monogenic disease 8558
            autosomal genetic disease 7555
              autosomal dominant disease 5080
                complex cortical dysplasia with other brain malformations 1424
                  Malformations of Cortical Development, Group III 21
                    polymicrogyria 15
                      bilateral perisylvian polymicrogyria 4
                        POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS 1
paths to the root