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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 6
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Accession:DOID:9004295 term browser browse the term
Synonyms:exact_synonym: PVNH6
 primary_id: OMIM:615544
 alt_id: RDO:9000989


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Periventricular Nodular Heterotopia 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ERMARD ER membrane associated RNA degradation ISO ClinVar Annotator: match by term: Periventricular nodular heterotopia 6 OMIM
ClinVar		 PMID:24056535 PMID:25741868 PMID:28492532 NCBI chr 6:167,823,630...167,854,200
Ensembl chr 6:172,861,675...172,891,822 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    physical disorder 4917
      congenital nervous system abnormality 1487
        periventricular nodular heterotopia 76
          Periventricular Nodular Heterotopia 6 1
Path 2
Term Annotations click to browse term
  disease 17996
    Developmental Disease 17885
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17802
        genetic disease 17786
          monogenic disease 10255
            autosomal genetic disease 9441
              autosomal dominant disease 6185
                complex cortical dysplasia with other brain malformations 1582
                  Malformations of Cortical Development, Group II 188
                    periventricular nodular heterotopia 76
                      Periventricular Nodular Heterotopia 6 1
paths to the root