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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:Periventricular Nodular Heterotopia 8
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Accession:DOID:9009257 term browser browse the term
Definition:A neurologic disorder characterized by abnormal neuronal migration during brain development, resulting in delayed psychomotor development.
Synonyms:exact_synonym: PVNH8
 primary_id: OMIM:618185
For additional species annotation, visit the Alliance of Genome Resources.


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Periventricular Nodular Heterotopia 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arf1 ADP-ribosylation factor 1 ISO ClinVar Annotator: match by term: PERIVENTRICULAR NODULAR HETEROTOPIA 8 ClinVar
OMIM
PMID:25741868 PMID:28868155 NCBI chr10:45,562,700...45,579,214
Ensembl chr10:45,563,547...45,579,029
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16122
    physical disorder 2480
      congenital nervous system abnormality 523
        periventricular nodular heterotopia 13
          Periventricular Nodular Heterotopia 8 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 II 137
                    periventricular nodular heterotopia 13
                      Periventricular Nodular Heterotopia 8 1
paths to the root