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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:NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM
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Accession:DOID:9009221 term browser browse the term
Synonyms:exact_synonym: NEDEHCC
 primary_id: OMIM:618090


show annotations for term's descendants           Sort by:
NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lnp1 leukemia NUP98 fusion partner 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum ClinVar NCBI chr11:43,660,873...43,678,727
Ensembl chr11:43,654,705...43,678,721 		JBrowse link
G Lnpk lunapark, ER junction formation factor ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum OMIM
ClinVar		 PMID:25741868 PMID:30032983 NCBI chr 3:59,418,872...59,487,029
Ensembl chr 3:59,424,286...59,486,518 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Neurodevelopmental Disorders 6848
        NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM 2
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        central nervous system disease 12432
          brain disease 11669
            disease of mental health 8321
              Neurodevelopmental Disorders 6848
                NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM 2
paths to the root