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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 5
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Accession:DOID:0070035 term browser browse the term
Definition:An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the SYNGAP1 gene on chromosome 6p21.32. (DO)
Synonyms:exact_synonym: INTELLECTUAL DISABILITY, AUTOSOMAL DOMINANT 5;   MRD5;   SYNGAP1-RELATED CONDITION;   SYNGAP1-RELATED DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY;   SYNGAP1-RELATED ENCEPHALOPATHY;   autosomal dominant mental retardation 5;   autosomal dominant non-syndromic intellectual disability 5
 primary_id: MESH:C567234
 alt_id: OMIM:612621
 xref: NCI:C178414


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autosomal dominant intellectual developmental disorder 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3galt4 Beta-1,3-galactosyltransferase 4 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 ClinVar PMID:28492532 NCBI chr20:4,936,089...4,937,664
Ensembl chr20:4,931,768...4,938,315 		JBrowse link
G Bak1 BCL2-antagonist/killer 1 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 ClinVar PMID:28492532 NCBI chr20:5,100,480...5,109,669
Ensembl chr20:5,100,480...5,109,264 		JBrowse link
G Col11a2 collagen type XI alpha 2 chain ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 ClinVar PMID:28492532 NCBI chr20:4,786,932...4,816,598
Ensembl chr20:4,786,929...4,815,985 		JBrowse link
G Cuta cutA divalent cation tolerance homolog ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 ClinVar PMID:28492532 NCBI chr20:5,022,956...5,024,580
Ensembl chr20:5,022,956...5,024,552 		JBrowse link
G Daxx death-domain associated protein ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 ClinVar PMID:28492532 NCBI chr20:4,970,090...4,976,145
Ensembl chr20:4,970,092...4,975,843 		JBrowse link
G Hsd17b8 hydroxysteroid (17-beta) dehydrogenase 8 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 ClinVar PMID:28492532 NCBI chr20:4,826,725...4,828,742
Ensembl chr20:4,822,026...4,828,742 		JBrowse link
G Itpr3 inositol 1,4,5-trisphosphate receptor, type 3 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 ClinVar PMID:28492532 NCBI chr20:5,136,968...5,202,339
Ensembl chr20:5,136,441...5,202,337 		JBrowse link
G Kifc1 kinesin family member C1 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 ClinVar PMID:28492532 NCBI chr20:4,998,832...5,017,107
Ensembl chr20:4,999,047...5,017,105 		JBrowse link
G Mir219a1 microRNA 219a-1 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 ClinVar PMID:28492532 NCBI chr20:4,829,687...4,829,796
Ensembl chr20:4,829,687...4,829,796 		JBrowse link
G Pfdn6 prefoldin subunit 6 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 ClinVar PMID:28492532 NCBI chr20:4,945,959...4,947,433
Ensembl chr20:4,945,959...4,947,433 		JBrowse link
G Phf1 PHD finger protein 1 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 ClinVar PMID:28492532 NCBI chr20:5,017,765...5,022,872
Ensembl chr20:5,017,893...5,022,871 		JBrowse link
G Ralgdsl2 ral guanine nucleotide dissociation stimulator like 2 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 ClinVar PMID:28492532 NCBI chr20:4,948,495...4,956,774
Ensembl chr20:4,948,497...4,969,911 		JBrowse link
G Ring1 ring finger protein 1 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 ClinVar PMID:28492532 NCBI chr20:4,830,120...4,833,623
Ensembl chr20:4,830,053...4,833,620 		JBrowse link
G Rps18 ribosomal protein S18 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 ClinVar PMID:28492532 NCBI chr20:4,931,427...4,935,538
Ensembl chr10:101,204,500...101,205,146
Ensembl chr20:101,204,500...101,205,146 		JBrowse link
G Rxrb retinoid X receptor beta ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 ClinVar PMID:28492532 NCBI chr20:4,816,813...4,823,267
Ensembl chr20:4,816,815...4,828,773 		JBrowse link
G Slc39a7 solute carrier family 39 member 7 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 ClinVar PMID:28492532 NCBI chr20:4,823,166...4,826,538
Ensembl chr20:4,822,012...4,826,537 		JBrowse link
G Smim40 small integral membrane protein 40 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 ClinVar PMID:28492532 NCBI chr20:4,978,658...4,989,050 JBrowse link
G Syngap1 synaptic Ras GTPase activating protein 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 5 | ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 | ClinVar Annotator: match by term: SYNGAP1-related condition | ClinVar Annotator: match by term: SYNGAP1-related developmental and epileptic encephalopathy | ClinVar Annotator: match by term: SYNGAP1-related encephalopathy		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:19196676 More... NCBI chr20:5,026,366...5,056,659
Ensembl chr20:5,026,364...5,056,672 		JBrowse link
G Tapbp TAP binding protein ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 ClinVar PMID:28492532 NCBI chr20:4,956,937...4,966,191
Ensembl chr20:4,956,937...4,966,181 		JBrowse link
G Vps52 VPS52 subunit of GARP complex ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 ClinVar PMID:28492532 NCBI chr20:4,920,715...4,931,685
Ensembl chr20:4,860,843...4,931,665 		JBrowse link
G Wdr46 WD repeat domain 46 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 ClinVar PMID:28492532 NCBI chr20:4,937,845...4,945,796
Ensembl chr20:4,937,847...4,946,535 		JBrowse link
G Zbtb22 zinc finger and BTB domain containing 22 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 ClinVar PMID:28492532 NCBI chr20:4,966,331...4,969,853
Ensembl chr20:4,966,271...4,969,498 		JBrowse link
G Zbtb9 zinc finger and BTB domain containing 9 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 5 ClinVar PMID:28492532 NCBI chr20:5,057,433...5,060,459
Ensembl chr20:5,057,434...5,062,819 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      Neurodevelopmental Disorders 6831
        intellectual disability 4289
          autosomal dominant intellectual developmental disorder 447
            autosomal dominant intellectual developmental disorder 5 23
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        central nervous system disease 12398
          brain disease 11633
            disease of mental health 8300
              developmental disorder of mental health 5542
                specific developmental disorder 4504
                  intellectual disability 4289
                    autosomal dominant intellectual developmental disorder 447
                      autosomal dominant intellectual developmental disorder 5 23
paths to the root