Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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.


show annotations for term's descendants           Sort by:
 
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 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 13605
    physical disorder 2814
      congenital nervous system abnormality 958
        periventricular nodular heterotopia 13
          Periventricular Nodular Heterotopia 6 1
Path 2
Term Annotations click to browse term
  disease 13605
    Developmental Disease 10021
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8345
        genetic disease 7901
          monogenic disease 6091
            autosomal genetic disease 5280
              autosomal dominant disease 3587
                complex cortical dysplasia with other brain malformations 1151
                  Malformations of Cortical Development, Group II 132
                    periventricular nodular heterotopia 13
                      Periventricular Nodular Heterotopia 6 1
paths to the root