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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
For additional species annotation, visit the Alliance of Genome Resources.


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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 OMIM NCBI chr 1:513,364...540,948
Ensembl chr 1:512,676...540,898
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13426
    physical disorder 2791
      congenital nervous system abnormality 954
        periventricular nodular heterotopia 13
          Periventricular Nodular Heterotopia 6 1
Path 2
Term Annotations click to browse term
  disease 13426
    Developmental Disease 9906
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8278
        genetic disease 7840
          monogenic disease 6015
            autosomal genetic disease 5226
              autosomal dominant disease 3545
                complex cortical dysplasia with other brain malformations 1147
                  Malformations of Cortical Development, Group II 134
                    periventricular nodular heterotopia 13
                      Periventricular Nodular Heterotopia 6 1
paths to the root