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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:Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities
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Accession:DOID:9004868 term browser browse the term
Definition:An autosomal dominant neurodevelopmental disorder.
Synonyms:exact_synonym: DDVIBA
 primary_id: OMIM:618430
For additional species annotation, visit the Alliance of Genome Resources.


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Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tcf20 transcription factor 20 ISO ClinVar Annotator: match by term: DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL IMPAIRMENT AND BEHAVIORAL ABNORMALITIES ClinVar
OMIM
PMID:25228304 PMID:25741868 PMID:27436265 PMID:30739909 PMID:30909959 NCBI chr 7:123,670,135...123,767,797
Ensembl chr 7:123,671,028...123,767,797
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    syndrome 7041
      Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities 1
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        central nervous system disease 9119
          brain disease 8448
            disease of mental health 6088
              Neurodevelopmental Disorders 4657
                Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities 1
paths to the root