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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 ClinVar Annotator: match by term: Periventricular nodular heterotopia 6 OMIM
ClinVar
PMID:24056535 PMID:25741868 NCBI chr17:15,041,551...15,090,045
Ensembl chr17:15,041,208...15,090,044
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14265
    physical disorder 2930
      congenital nervous system abnormality 983
        periventricular nodular heterotopia 13
          Periventricular Nodular Heterotopia 6 1
Path 2
Term Annotations click to browse term
  disease 14265
    Developmental Disease 10434
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8723
        genetic disease 8269
          monogenic disease 6318
            autosomal genetic disease 5479
              autosomal dominant disease 3710
                complex cortical dysplasia with other brain malformations 1169
                  Malformations of Cortical Development, Group II 137
                    periventricular nodular heterotopia 13
                      Periventricular Nodular Heterotopia 6 1
paths to the root