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 IAGP ClinVar Annotator: match by term: Periventricular nodular heterotopia 6 ClinVar
OMIM
PMID:24056535 PMID:25741868 NCBI chr 6:169,751,622...169,781,600
Ensembl chr 6:169,751,622...169,781,600
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18996
    physical disorder 2835
      congenital nervous system abnormality 576
        periventricular nodular heterotopia 14
          Periventricular Nodular Heterotopia 6 1
Path 2
Term Annotations click to browse term
  disease 18996
    Developmental Disease 12271
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 10081
        genetic disease 9568
          monogenic disease 6969
            autosomal genetic disease 5860
              autosomal dominant disease 3757
                complex cortical dysplasia with other brain malformations 785
                  Malformations of Cortical Development, Group II 152
                    periventricular nodular heterotopia 14
                      Periventricular Nodular Heterotopia 6 1
paths to the root