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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


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Periventricular Nodular Heterotopia 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NEDD4L NEDD4 like E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: Chromosome 5Q14.3 deletion syndrome, distal ClinVar PMID:25741868 PMID:27694961 PMID:28492532 PMID:28515470 NCBI chr 1:17,629,163...17,858,471
Ensembl chr 1:17,633,591...17,950,072 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17773
    physical disorder 4879
      congenital nervous system abnormality 1487
        periventricular nodular heterotopia 74
          Periventricular Nodular Heterotopia 5 1
Path 2
Term Annotations click to browse term
  disease 17773
    Developmental Disease 17564
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17452
        genetic disease 17430
          monogenic disease 10127
            autosomal genetic disease 9334
              autosomal dominant disease 6137
                complex cortical dysplasia with other brain malformations 1587
                  Malformations of Cortical Development, Group II 189
                    periventricular nodular heterotopia 74
                      Periventricular Nodular Heterotopia 5 1
paths to the root