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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 A4galt alpha 1,4-galactosyltransferase (P blood group) ISO ClinVar Annotator: match by term: Developmental delay with variable intellectual impairment and behavioral abnormalities ClinVar PMID:30819258 PMID:31690835 NCBI chr 7:114,368,525...114,392,872
Ensembl chr 7:114,368,276...114,396,071
JBrowse link
G Arfgap3 ADP-ribosylation factor GTPase activating protein 3 ISO ClinVar Annotator: match by term: Developmental delay with variable intellectual impairment and behavioral abnormalities ClinVar PMID:30819258 PMID:31690835 NCBI chr 7:114,432,873...114,479,206
Ensembl chr 7:114,432,873...114,479,208
JBrowse link
G Bik BCL2-interacting killer ISO ClinVar Annotator: match by term: Developmental delay with variable intellectual impairment and behavioral abnormalities ClinVar PMID:30819258 PMID:31690835 NCBI chr 7:114,672,277...114,691,296
Ensembl chr 7:114,672,277...114,691,296
JBrowse link
G Cyb5r3 cytochrome b5 reductase 3 ISO ClinVar Annotator: match by term: Developmental delay with variable intellectual impairment and behavioral abnormalities ClinVar PMID:30819258 PMID:31690835 NCBI chr 7:114,306,686...114,324,247
Ensembl chr 7:114,306,685...114,324,298
JBrowse link
G Cyp2d4 cytochrome P450, family 2, subfamily d, polypeptide 4 ISO ClinVar Annotator: match by term: Developmental delay with variable intellectual impairment and behavioral abnormalities ClinVar PMID:30819258 PMID:31690835 NCBI chr 7:113,882,584...113,891,754
Ensembl chr 7:113,881,618...113,891,759
JBrowse link
G Mcat malonyl-CoA-acyl carrier protein transacylase ISO ClinVar Annotator: match by term: Developmental delay with variable intellectual impairment and behavioral abnormalities ClinVar PMID:30819258 PMID:31690835 NCBI chr 7:114,693,612...114,705,677
Ensembl chr 7:114,693,612...114,704,542
JBrowse link
G Naga alpha-N-acetylgalactosaminidase ISO ClinVar Annotator: match by term: Developmental delay with variable intellectual impairment and behavioral abnormalities ClinVar PMID:30819258 PMID:31690835 NCBI chr 7:113,846,358...113,855,430
Ensembl chr 7:113,846,374...113,855,315
JBrowse link
G Ndufa6 NADH:ubiquinone oxidoreductase subunit A6 ISO ClinVar Annotator: match by term: Developmental delay with variable intellectual impairment and behavioral abnormalities ClinVar PMID:30819258 PMID:31690835 NCBI chr 7:113,866,382...113,870,239
Ensembl chr 7:113,866,382...113,870,239
JBrowse link
G Nfam1 NFAT activating protein with ITAM motif 1 ISO ClinVar Annotator: match by term: Developmental delay with variable intellectual impairment and behavioral abnormalities ClinVar PMID:30819258 PMID:31690835 NCBI chr 7:114,139,318...114,175,395
Ensembl chr 7:114,139,345...114,175,442
JBrowse link
G Pacsin2 protein kinase C and casein kinase substrate in neurons 2 ISO ClinVar Annotator: match by term: Developmental delay with variable intellectual impairment and behavioral abnormalities ClinVar PMID:30819258 PMID:31690835 NCBI chr 7:114,505,525...114,599,087
Ensembl chr 7:114,505,152...114,598,546
JBrowse link
G Pheta2 PH domain containing endocytic trafficking adaptor 2 ISO ClinVar Annotator: match by term: Developmental delay with variable intellectual impairment and behavioral abnormalities ClinVar PMID:30819258 PMID:31690835 NCBI chr 7:113,855,437...113,861,910
Ensembl chr 7:113,857,249...113,861,871
JBrowse link
G Poldip3 DNA polymerase delta interacting protein 3 ISO ClinVar Annotator: match by term: Developmental delay with variable intellectual impairment and behavioral abnormalities ClinVar PMID:30819258 PMID:31690835 NCBI chr 7:114,274,845...114,303,278
Ensembl chr 7:114,275,085...114,303,271
JBrowse link
G Rrp7a ribosomal RNA processing 7 homolog A ISO ClinVar Annotator: match by term: Developmental delay with variable intellectual impairment and behavioral abnormalities ClinVar PMID:30819258 PMID:31690835 NCBI chr 7:114,262,929...114,272,817
Ensembl chr 7:114,256,472...114,272,817
JBrowse link
G Scube1 signal peptide, CUB domain and EGF like domain containing 1 ISO ClinVar Annotator: match by term: Developmental delay with variable intellectual impairment and behavioral abnormalities ClinVar PMID:30819258 PMID:31690835 NCBI chr 7:114,759,016...114,880,995
Ensembl chr 7:114,759,010...114,880,940
JBrowse link
G Serhl2 serine hydrolase-like 2 ISO ClinVar Annotator: match by term: Developmental delay with variable intellectual impairment and behavioral abnormalities ClinVar PMID:30819258 PMID:31690835 NCBI chr 7:114,246,056...114,272,781
Ensembl chr 7:114,246,056...114,272,781
JBrowse link
G Smdt1 single-pass membrane protein with aspartate-rich tail 1 ISO ClinVar Annotator: match by term: Developmental delay with variable intellectual impairment and behavioral abnormalities ClinVar PMID:30819258 PMID:31690835 NCBI chr 7:113,861,997...113,865,245 JBrowse link
G Tcf20 transcription factor 20 ISO ClinVar Annotator: match by term: DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL IMPAIRMENT AND BEHAVIORAL ABNORMALITIES
ClinVar Annotator: match by term: Developmental delay with variable intellectual impairment and behavioral abnormalities
ClinVar
OMIM
PMID:25228304 PMID:25741868 PMID:27436265 PMID:28492532 PMID:30739909 More... NCBI chr 7:113,953,449...114,104,166
Ensembl chr 7:113,954,089...114,051,839
JBrowse link
G Tspo translocator protein ISO ClinVar Annotator: match by term: Developmental delay with variable intellectual impairment and behavioral abnormalities ClinVar PMID:30819258 PMID:31690835 NCBI chr 7:114,720,188...114,730,450
Ensembl chr 7:114,720,188...114,730,450
JBrowse link
G Ttll1 tubulin tyrosine ligase like 1 ISO ClinVar Annotator: match by term: Developmental delay with variable intellectual impairment and behavioral abnormalities ClinVar PMID:30819258 PMID:31690835 NCBI chr 7:114,619,509...114,648,850
Ensembl chr 7:114,619,508...114,648,761
JBrowse link
G Ttll12 tubulin tyrosine ligase like 12 ISO ClinVar Annotator: match by term: Developmental delay with variable intellectual impairment and behavioral abnormalities ClinVar PMID:30819258 PMID:31690835 NCBI chr 7:114,731,890...114,751,237
Ensembl chr 7:114,731,892...114,751,356
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    syndrome 8166
      Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities 20
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        central nervous system disease 10420
          brain disease 9782
            disease of mental health 7070
              Neurodevelopmental Disorders 5718
                Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities 20
paths to the root