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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 7
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Accession:DOID:9001678 term browser browse the term
Definition:A neurologic disorder characterized by abnormal neuronal migration during brain development resulting in delayed psychomotor development and intellectual disability. (OMIM)
Synonyms:exact_synonym: PVNH7;   Periventricular Nodular Heterotopia with Syndactyly, Cleft Palate and Developmental Delay
 primary_id: OMIM:617201
For additional species annotation, visit the Alliance of Genome Resources.


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Periventricular Nodular Heterotopia 7 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: PERIVENTRICULAR NODULAR HETEROTOPIA 7
ClinVar Annotator: match by term: Periventricular nodular heterotopia 7
ClinVar
OMIM
PMID:25741868, PMID:27694961, PMID:32238909 NCBI chr18:60,392,376...60,719,720
Ensembl chr18:60,392,376...60,719,720
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    physical disorder 985
      orofacial cleft 125
        cleft palate 96
          Periventricular Nodular Heterotopia 7 1
Path 2
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        genetic disease 7859
          monogenic disease 5678
            autosomal genetic disease 4699
              autosomal dominant disease 3029
                complex cortical dysplasia with other brain malformations 743
                  Malformations of Cortical Development, Group II 136
                    periventricular nodular heterotopia 13
                      Periventricular Nodular Heterotopia 7 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.