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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 3
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Accession:DOID:9005203 term browser browse the term
Synonyms:exact_synonym: PVNH3;   Periventricular Heterotopia associated with Chromosome 5p Anomalies
 primary_id: MESH:C564291
 alt_id: OMIM:608098;   RDO:0013308
For additional species annotation, visit the Alliance of Genome Resources.


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    physical disorder 2917
      congenital nervous system abnormality 977
        periventricular nodular heterotopia 13
          Periventricular Nodular Heterotopia 3 0
Path 2
Term Annotations click to browse term
  disease 16909
    Developmental Disease 10557
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8872
        genetic disease 8389
          monogenic disease 6330
            autosomal genetic disease 5485
              autosomal dominant disease 3709
                complex cortical dysplasia with other brain malformations 1163
                  Malformations of Cortical Development, Group II 140
                    periventricular nodular heterotopia 13
                      Periventricular Nodular Heterotopia 3 0
paths to the root