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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 6:134,958,964...134,963,799
Ensembl chr 6:134,958,681...134,963,799
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 6:136,900,653...136,918,895
Ensembl chr 6:136,900,653...136,918,897
JBrowse link
G Art4 ADP-ribosyltransferase 4 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:136,825,449...136,834,598
Ensembl chr 6:136,825,449...136,834,731
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 6:136,495,787...136,587,848
Ensembl chr 6:136,483,165...136,587,860
JBrowse link
G BC049715 cDNA sequence BC049715 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:136,805,158...136,818,918
Ensembl chr 6:136,804,624...136,817,660
JBrowse link
G Bcl2l14 BCL2 like 14 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:134,373,292...134,415,687
Ensembl chr 6:134,373,281...134,415,699
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 6:134,616,475...134,688,147
Ensembl chr 6:134,616,473...134,688,150
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 6:134,897,364...134,902,488
Ensembl chr 6:134,897,364...134,902,476
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 6:134,807,090...134,835,894
Ensembl chr 6:134,807,117...134,835,894
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 6:134,988,575...135,000,739
Ensembl chr 6:134,988,575...135,000,739
JBrowse link
G Dusp16 dual specificity phosphatase 16 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:134,692,431...134,769,687
Ensembl chr 6:134,692,431...134,769,588
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 6:135,339,548...135,360,171
Ensembl chr 6:135,339,543...135,360,171
JBrowse link
G Eps8 epidermal growth factor receptor pathway substrate 8 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:137,454,242...137,626,262
Ensembl chr 6:137,454,243...137,631,874
JBrowse link
G Erp27 endoplasmic reticulum protein 27 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:136,884,312...136,899,465
Ensembl chr 6:136,884,309...136,899,178
JBrowse link
G Etv6 ets variant 6 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:134,012,663...134,247,121
Ensembl chr 6:134,012,663...134,247,121
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 6:135,173,881...135,213,240
Ensembl chr 6:135,174,975...135,221,953
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 6:134,846,055...134,875,157
Ensembl chr 6:134,846,056...134,875,541
JBrowse link
G Gprc5a G protein-coupled receptor, family 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 6:135,042,660...135,061,707
Ensembl chr 6:135,042,649...135,061,707
JBrowse link
G Gprc5d G protein-coupled receptor, family 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 6:135,082,989...135,095,281
Ensembl chr 6:135,082,989...135,095,281
JBrowse link
G Grin2b glutamate receptor, ionotropic, NMDA2B (epsilon 2) 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 6:135,690,219...136,150,658
Ensembl chr 6:135,690,231...136,150,509
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 6:135,214,327...135,231,334
Ensembl chr 6:135,214,324...135,231,349
Ensembl chr 6:135,214,324...135,231,349
JBrowse link
G Gucy2c guanylate cyclase 2c ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:136,674,282...136,758,740
Ensembl chr 6:136,674,282...136,758,763
JBrowse link
G H2aj H2J.A histone ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:136,785,246...136,787,072
Ensembl chr 6:136,785,242...136,787,072
JBrowse link
G H4c16 H4 histone 16 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:136,780,991...136,781,429
Ensembl chr 6:136,778,551...136,781,413
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 6:135,114,517...135,145,213
Ensembl chr 6:135,114,520...135,175,020
JBrowse link
G Lrp6 low density lipoprotein receptor-related protein 6 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:134,423,439...134,543,876
Ensembl chr 6:134,423,439...134,543,928
JBrowse link
G Mansc1 MANSC domain containing 1 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:134,586,170...134,609,451
Ensembl chr 6:134,586,170...134,609,451
JBrowse link
G Mgp matrix Gla protein ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:136,849,433...136,852,821
Ensembl chr 6:136,849,433...136,852,821
JBrowse link
G Pde6h phosphodiesterase 6H, cGMP-specific, cone, gamma ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6 ClinVar PMID:28492532 NCBI chr 6:136,929,216...136,940,483
Ensembl chr 6:136,900,830...136,945,863
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 6:136,589,069...136,639,301
Ensembl chr 6:136,589,068...136,638,926
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 6:137,229,189...137,440,251
Ensembl chr 6:137,229,317...137,440,231
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 6:137,031,822...137,147,494
Ensembl chr 6:137,031,823...137,147,495
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 6:136,806,929...136,812,448
Ensembl chr 6:136,806,925...136,812,450
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 6:136,790,652...136,805,214
Ensembl chr 6:136,790,652...136,805,231
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16271
    Developmental Disease 14076
      Neurodevelopmental Disorders 7025
        intellectual disability 4423
          autosomal dominant intellectual developmental disorder 474
            autosomal dominant intellectual developmental disorder 6 34
Path 2
Term Annotations click to browse term
  disease 16271
    disease of anatomical entity 15862
      nervous system disease 13796
        central nervous system disease 12314
          brain disease 11556
            disease of mental health 8342
              developmental disorder of mental health 5686
                specific developmental disorder 4632
                  intellectual disability 4423
                    autosomal dominant intellectual developmental disorder 474
                      autosomal dominant intellectual developmental disorder 6 34
paths to the root