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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 13605
    physical disorder 2814
      congenital nervous system abnormality 958
        periventricular nodular heterotopia 13
          Periventricular Nodular Heterotopia 3 0
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 3 0
paths to the root