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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;   TCF20-RELATED CONDITION
 primary_id: MIM:618430
 xref: EFO:0010644


show annotations for term's descendants           Sort by:
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 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 ARF 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 7:116,312,996...116,359,300
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 7:116,186,729...116,204,290
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 7:115,762,662...115,771,832
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 7:115,726,438...115,735,494
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 7:115,746,460...115,750,317
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 7:114,246,035...114,266,298
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 7:113,862,162...113,865,245
Ensembl chr 7:113,860,611...113,865,226 		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: TCF20-related condition OMIM
ClinVar		 PMID:22081970 PMID:25228304 PMID:25741868 PMID:27436265 PMID:28135719 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 7:116,600,214...116,610,461
Ensembl chr 7:114,720,188...114,730,450 		JBrowse link
G Ttll1 TTL family tubulin polyglutamylase complex subunit L1 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 7:116,612,609...116,631,244
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 19143
    syndrome 11406
      Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities 20
Path 2
Term Annotations click to browse term
  disease 19143
    disease of anatomical entity 18456
      nervous system disease 14362
        central nervous system disease 12645
          brain disease 11865
            disease of mental health 8477
              Neurodevelopmental Disorders 6977
                Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities 20
paths to the root