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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 9
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Accession:DOID:9001401 term browser browse the term
Definition:An autosomal dominant neurologic disorder characterized as a malformation of cortical development caused by heterozygous mutation in the MAP1B gene on chromosome 5q13. (OMIM)
Synonyms:exact_synonym: PVNH9
 primary_id: OMIM:618918
For additional species annotation, visit the Alliance of Genome Resources.


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Periventricular Nodular Heterotopia 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MAP1B microtubule associated protein 1B ISO OMIM NCBI chr 5:43,102,739...43,204,978
Ensembl chr 5:43,701,530...43,803,393
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13609
    physical disorder 2853
      congenital nervous system abnormality 958
        periventricular nodular heterotopia 13
          Periventricular Nodular Heterotopia 9 1
Path 2
Term Annotations click to browse term
  disease 13609
    Developmental Disease 10031
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8355
        genetic disease 7910
          monogenic disease 6097
            autosomal genetic disease 5285
              autosomal dominant disease 3624
                complex cortical dysplasia with other brain malformations 1151
                  Malformations of Cortical Development, Group II 132
                    periventricular nodular heterotopia 13
                      Periventricular Nodular Heterotopia 9 1
paths to the root