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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 Autistic Features and/or Structural Brain Abnormalities
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Accession:DOID:9001712 term browser browse the term
Definition:An early-onset neurologic disorder characterized by global developmental delay, poor or absent speech and language development, and behavioral abnormalities reminiscent of autism spectrum disorder or Angelman syndrome. (OMIM)
Synonyms:exact_synonym: NEDASB
 primary_id: OMIM:618859
For additional species annotation, visit the Alliance of Genome Resources.


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Neurodevelopmental Disorder with or without Autistic Features and/or Structural Brain Abnormalities term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nova2 NOVA alternative splicing regulator 2 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISTIC FEATURES AND/OR STRUCTURAL BRAIN ABNORMALITIES ClinVar
OMIM
PMID:25167861 PMID:32197073 NCBI chr 1:79,831,737...79,866,147
Ensembl chr 1:79,831,534...79,865,807
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16937
    Developmental Disease 10589
      Neurodevelopmental Disorders 5572
        Neurodevelopmental Disorder with or without Autistic Features and/or Structural Brain Abnormalities 1
Path 2
Term Annotations click to browse term
  disease 16937
    disease of anatomical entity 16303
      nervous system disease 11877
        central nervous system disease 10208
          brain disease 9580
            disease of mental health 6937
              developmental disorder of mental health 4277
                pervasive developmental disorder 1822
                  autism spectrum disorder 1812
                    autistic disorder 1613
                      Neurodevelopmental Disorder with or without Autistic Features and/or Structural Brain Abnormalities 1
paths to the root