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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 ClinVar Annotator: match by term: PERIVENTRICULAR NODULAR HETEROTOPIA 9 OMIM
ClinVar
PMID:25741868 PMID:29738522 PMID:30150678 PMID:31317654 NCBI chr 2:29,675,391...29,768,750
Ensembl chr 2:29,675,391...29,768,750
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16122
    physical disorder 2480
      congenital nervous system abnormality 523
        periventricular nodular heterotopia 13
          Periventricular Nodular Heterotopia 9 1
Path 2
Term Annotations click to browse term
  disease 16122
    Developmental Diseases 9597
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8441
        genetic disease 7944
          monogenic disease 5728
            autosomal genetic disease 4877
              autosomal dominant disease 3159
                complex cortical dysplasia with other brain malformations 716
                  Malformations of Cortical Development, Group II 137
                    periventricular nodular heterotopia 13
                      Periventricular Nodular Heterotopia 9 1
paths to the root