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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 Anomalies of the Brain, Eye, or Heart
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Accession:DOID:9004468 term browser browse the term
Definition:An autosomal dominant syndrome characterized by onset in infancy of developmental delay, intellectual disability, and behavioral disorders, such as autism spectrum disorders. (OMIM)
Synonyms:exact_synonym: NEDBEH
 primary_id: OMIM:616975
For additional species annotation, visit the Alliance of Genome Resources.



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Neurodevelopmental Disorder with or without Anomalies of the Brain, Eye, or Heart term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rere arginine-glutamic acid dipeptide repeats ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART
ClinVar Annotator: match by term: Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
ClinVar
OMIM
PMID:25741868 PMID:26350515 PMID:27087320 PMID:29330883 NCBI chr 5:160,765,855...161,097,678
Ensembl chr 5:160,765,934...161,097,677
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17251
    physical disorder 3093
      congenital heart disease 1083
        Neurodevelopmental Disorder with or without Anomalies of the Brain, Eye, or Heart 1
Path 2
Term Annotations click to browse term
  disease 17251
    disease of anatomical entity 16595
      nervous system disease 12130
        central nervous system disease 10402
          brain disease 9763
            disease of mental health 7060
              Neurodevelopmental Disorders 5712
                Neurodevelopmental Disorder with or without Anomalies of the Brain, Eye, or Heart 1
paths to the root