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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:17151600, PMID:18351660, PMID:25228304, PMID:25533962, PMID:25741868, PMID:27436265, PMID:27479843, PMID:28135719, 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 16023
    syndrome 7003
      Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities 1
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        central nervous system disease 9045
          brain disease 8370
            disease of mental health 6047
              Neurodevelopmental Disorders 4619
                Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.