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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:autosomal dominant intellectual developmental disorder 6
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Accession:DOID:0070036 term browser browse the term
Definition:An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the GRIN2B gene on chromosome 12p13.1. (DO)
Synonyms:exact_synonym: INTELLECTUAL DISABILITY, AUTOSOMAL DOMINANT 6;   MRD6;   autosomal dominant intellectual developmental disorder 6, with or without seizures;   autosomal dominant mental retardation 6;   autosomal dominant mental retardation 6, with or without seizures;   autosomal dominant non-syndromic intellectual disability 6
 broad_synonym: GRIN2B-RELATED CONDITION;   GRIN2B-RELATED DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY AND AUTISM SPECTRUM DISORDER;   GRIN2B-RELATED DISORDER
 primary_id: MIM:613970



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autosomal dominant intellectual developmental disorder 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apold1 apolipoprotein L domain containing 1 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:23918416 PMID:27656287 PMID:28377535 PMID:28492532 PMID:28503605 NCBI chr 4:169,499,728...169,557,075 JBrowse link
G Arhgdib Rho GDP dissociation inhibitor beta ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 4:171,554,139...171,573,057 JBrowse link
G Art4 ADP-ribosyltransferase 4 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 4:171,468,415...171,482,435 JBrowse link
G Atf7ip activating transcription factor 7 interacting protein ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 4:169,385,872...169,471,652 JBrowse link
G Bcl2l14 Bcl2-like 14 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 4:167,217,561...167,258,723 JBrowse link
G Borcs5 BLOC-1 related complex subunit 5 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 4:167,458,640...167,543,556 JBrowse link
G C4h12orf60 similar to human chromosome 12 open reading frame 60 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 4:169,716,821...169,731,532 JBrowse link
G Cdkn1b cyclin-dependent kinase inhibitor 1B ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:23918416 PMID:27656287 PMID:28377535 PMID:28492532 PMID:28503605 NCBI chr 4:169,491,273...169,496,500 JBrowse link
G Crebl2 cAMP responsive element binding protein-like 2 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 4:167,673,359...167,699,299 JBrowse link
G Ddx47 DEAD-box helicase 47 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:23918416 PMID:27656287 PMID:28377535 PMID:28492532 PMID:28503605 NCBI chr 4:167,845,652...167,858,115 JBrowse link
G Dusp16 dual specificity phosphatase 16 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 4:169,278,118...169,361,508 JBrowse link
G Emp1 epithelial membrane protein 1 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:23918416 PMID:27656287 PMID:28377535 PMID:28492532 PMID:28503605 NCBI chr 4:168,212,901...168,233,039 JBrowse link
G Eps8 EGFR pathway substrate 8, signaling adaptor ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 4:170,388,378...170,486,873 JBrowse link
G Erp27 endoplasmic reticulum protein 27 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 4:169,804,656...169,821,660 JBrowse link
G Etv6 ETS variant transcription factor 6 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 4:166,849,031...167,085,211 JBrowse link
G Fam234b family with sequence similarity 234, member B ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:23918416 PMID:27656287 PMID:28377535 PMID:28492532 PMID:28503605 NCBI chr 4:168,048,313...168,124,017 JBrowse link
G Gpr19 G protein-coupled receptor 19 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 4:167,710,944...167,739,232 JBrowse link
G Gprc5a G protein-coupled receptor, class C, group 5, member A ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:23918416 PMID:27656287 PMID:28377535 PMID:28492532 PMID:28503605 NCBI chr 4:167,903,542...167,922,276 JBrowse link
G Gprc5d G protein-coupled receptor, class C, group 5, member D ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:23918416 PMID:27656287 PMID:28377535 PMID:28492532 PMID:28503605 NCBI chr 4:167,943,523...167,955,616 JBrowse link
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B ISO ClinVar Annotator: match by term: GRIN2B-related disorder | ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:16537520 PMID:17576681 PMID:18414213 More... NCBI chr 4:170,297,811...170,775,420 JBrowse link
G Gsg1 germ cell associated 1 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:23918416 PMID:27656287 PMID:28377535 PMID:28492532 PMID:28503605 NCBI chr 4:168,090,773...168,107,039 JBrowse link
G Gucy2c guanylate cyclase 2C ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 4:171,299,715...171,380,296 JBrowse link
G H2aj H2A.J histone ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 4:171,406,922...171,407,406 JBrowse link
G Hebp1 heme binding protein 1 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:23918416 PMID:27656287 PMID:28377535 PMID:28492532 PMID:28503605 NCBI chr 4:169,705,665...169,735,199 JBrowse link
G Lrp6 LDL receptor related protein 6 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 4:167,269,856...167,400,364 JBrowse link
G Mansc1 MANSC domain containing 1 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 4:167,438,817...167,459,047 JBrowse link
G Mgp matrix Gla protein ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 4:171,497,472...171,500,888 JBrowse link
G Pde6h phosphodiesterase 6H ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 4:169,857,793...169,872,969 JBrowse link
G Plbd1 phospholipase B domain containing 1 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 4:169,472,983...169,529,277 JBrowse link
G Ptpro protein tyrosine phosphatase, receptor type, O ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 4:171,895,104...172,105,911 JBrowse link
G Rerg RAS-like, estrogen-regulated, growth-inhibitor ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 4:169,981,634...170,089,777 JBrowse link
G Smco3 single-pass membrane protein with coiled-coil domains 3 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 4:169,719,962...169,728,849 JBrowse link
G Wbp11 WW domain binding protein 11 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 4:169,680,984...169,694,431 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    Developmental Disease 14664
      Neurodevelopmental Disorders 6967
        intellectual disability 4381
          autosomal dominant intellectual developmental disorder 463
            autosomal dominant intellectual developmental disorder 6 33
Path 2
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18450
      nervous system disease 14359
        central nervous system disease 12634
          brain disease 11853
            disease of mental health 8450
              developmental disorder of mental health 5646
                specific developmental disorder 4609
                  intellectual disability 4381
                    autosomal dominant intellectual developmental disorder 463
                      autosomal dominant intellectual developmental disorder 6 33
paths to the root