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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 OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY
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Accession:DOID:9004635 term browser browse the term
Definition:A disease characterized by global developmental delay apparent from infancy or early childhood. Affected individuals have variably impaired intellectual development, speech delay, and behavioral abnormalities. Brain imaging is essentially normal and there are no significant accompanying neurologic or systemic abnormalities.
Synonyms:exact_synonym: NBEA-RELATED COMPLEX NEURODEVELOPMENTAL DISORDER;   NBEA-RELATED CONDITION;   NEDEGE
 narrow_synonym: NBEA-RELATED DEVELOPMENTAL DELAY AND GENERALIZED EPILEPSY
 primary_id: OMIM:619157


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NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NBEA neurobeachin ISO ClinVar Annotator: match by term: NBEA-related complex neurodevelopmental disorder | ClinVar Annotator: match by term: NBEA-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with or without early-onset generalized epilepsy OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30269351 PMID:34412939 NCBI chr25:4,856,748...5,537,040
Ensembl chr25:4,858,115...5,537,025 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15603
    Developmental Disease 13502
      Neurodevelopmental Disorders 6806
        NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY 1
Path 2
Term Annotations click to browse term
  disease 15603
    disease of anatomical entity 15182
      nervous system disease 13239
        central nervous system disease 11877
          brain disease 11159
            disease of mental health 8084
              Neurodevelopmental Disorders 6806
                NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY 1
paths to the root