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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 5
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Accession:DOID:9004420 term browser browse the term
Synonyms:exact_synonym: CHROMOSOME 5q14.3 DELETION SYNDROME, DISTAL;   PVNH5;   Periventricular Heterotopia associated with Chromosome 5q Deletion
 primary_id: MESH:C567876
 alt_id: OMIM:612881;   RDO:0012072
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 16158
    physical disorder 2486
      congenital nervous system abnormality 528
        periventricular nodular heterotopia 13
          Periventricular Nodular Heterotopia 5 0
Path 2
Term Annotations click to browse term
  disease 16158
    Developmental Disease 9628
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8455
        genetic disease 7972
          monogenic disease 5749
            autosomal genetic disease 4887
              autosomal dominant disease 3117
                complex cortical dysplasia with other brain malformations 717
                  Malformations of Cortical Development, Group II 139
                    periventricular nodular heterotopia 13
                      Periventricular Nodular Heterotopia 5 0
paths to the root