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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 AUTISM OR SEIZURES
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Accession:DOID:9004952 term browser browse the term
Definition:This is a disease characterized by global developmental delay apparent in infancy, impaired intellectual development, and speech delay.
Synonyms:exact_synonym: NEDAUS
 broad_synonym: CUL3-RELATED CONDITION;   CUL3-RELATED DISORDER
 primary_id: OMIM:619239


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NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cul3 cullin 3 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with or without autism or seizures OMIM
ClinVar		 PMID:16199547 PMID:25741868 PMID:27824329 PMID:28492532 PMID:29361671 More... NCBI chr 9:81,592,641...81,670,428
Ensembl chr 9:81,592,641...81,670,462 		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 OR WITHOUT AUTISM OR SEIZURES 1
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 OR WITHOUT AUTISM OR SEIZURES 1
paths to the root