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autosomal dominant intellectual developmental disorder 48 - Ontology Report - Rat Genome Database

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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 48
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Accession:DOID:0080235 term browser browse the term
Definition:An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the RAC1 gene on chromosome 7p22. (DO)
Synonyms:exact_synonym: MRD48;   RAC1-RELATED CONDITION;   autosomal dominant mental retardation 48
 primary_id: MIM:617751
 xref: EFO:0009156

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autosomal dominant intellectual developmental disorder 48 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Rac1 Rac family small GTPase 1 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 48 | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 48 | ClinVar Annotator: match by term: RAC1-related condition OMIM
ClinVar		 PMID:25741868 PMID:25741888 PMID:28492532 PMID:28886345 PMID:30042656 More... NCBI chrNW_004624740:30,912,841...30,933,882
Ensembl chrNW_004624740:30,911,598...30,934,025 		JBrowse link
G G RAC1 Rac family small GTPase 1 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 48 | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 48 | ClinVar Annotator: match by term: RAC1-related condition OMIM
ClinVar		 PMID:25741868 PMID:25741888 PMID:28492532 PMID:28886345 PMID:30042656 More... NCBI chr28:15,583,609...15,610,753
Ensembl chr28:15,583,516...15,610,328 		JBrowse link
G P RAC1 Rac family small GTPase 1 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 48 | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 48 | ClinVar Annotator: match by term: RAC1-related condition OMIM
ClinVar		 PMID:25741868 PMID:25741888 PMID:28492532 PMID:28886345 PMID:30042656 More... NCBI chr 3:4,781,776...4,803,510
Ensembl chr 3:4,781,780...4,803,543 		JBrowse link
G S Rac1 Rac family small GTPase 1 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 48 | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 48 | ClinVar Annotator: match by term: RAC1-related condition OMIM
ClinVar		 PMID:25741868 PMID:25741888 PMID:28492532 PMID:28886345 PMID:30042656 More... NCBI chrNW_004936750:107,689...122,679
Ensembl chrNW_004936750:107,689...122,676 		JBrowse link
G D RAC1 Rac family small GTPase 1 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 48 | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 48 | ClinVar Annotator: match by term: RAC1-related condition OMIM
ClinVar		 PMID:25741868 PMID:25741888 PMID:28492532 PMID:28886345 PMID:30042656 More... NCBI chr 6:11,726,259...11,758,532
Ensembl chr 6:11,655,494...11,757,216 		JBrowse link
G B RAC1 Rac family small GTPase 1 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 48 | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 48 | ClinVar Annotator: match by term: RAC1-related condition OMIM
ClinVar		 PMID:25741868 PMID:25741888 PMID:28492532 PMID:28886345 PMID:30042656 More... NCBI chr 7:7,039,379...7,068,866 JBrowse link
G C Rac1 Rac family small GTPase 1 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 48 | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 48 | ClinVar Annotator: match by term: RAC1-related condition OMIM
ClinVar		 PMID:25741868 PMID:25741888 PMID:28492532 PMID:28886345 PMID:30042656 More... NCBI chrNW_004955460:13,270,159...13,295,562
Ensembl chrNW_004955460:13,270,159...13,311,351 		JBrowse link
G R Rac1 Rac family small GTPase 1 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 48 | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 48 | ClinVar Annotator: match by term: RAC1-related condition OMIM
ClinVar		 PMID:25741868 PMID:25741888 PMID:28492532 PMID:28886345 PMID:30042656 More... NCBI chr12:16,150,411...16,170,864
Ensembl chr12:11,036,698...11,057,251 		JBrowse link
G M Rac1 Rac family small GTPase 1 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 48 | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 48 | ClinVar Annotator: match by term: RAC1-related condition OMIM
ClinVar		 PMID:25741868 PMID:25741888 PMID:28492532 PMID:28886345 PMID:30042656 More... NCBI chr 5:143,491,236...143,513,786
Ensembl chr 5:143,489,389...143,513,791 		JBrowse link
G H RAC1 Rac family small GTPase 1 IAGP ClinVar Annotator: match by term: RAC1-related condition
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 48 | ClinVar Annotator: match by term: RAC1-related condition
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 48 | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 48		 OMIM
ClinVar		 PMID:25741868 PMID:25741888 PMID:28492532 PMID:28886345 PMID:30042656 More... NCBI chr 7:6,374,527...6,403,967
Ensembl chr 7:6,374,527...6,403,967 		JBrowse link
G N Rarb retinoic acid receptor beta ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 48 ClinVar PMID:14973393 PMID:17506106 PMID:24075189 PMID:25457163 PMID:25741868 More... NCBI chrNW_004624788:2,738,341...3,493,140
Ensembl chrNW_004624788:3,257,697...3,493,132 		JBrowse link
G G RARB retinoic acid receptor beta ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 48 ClinVar PMID:14973393 PMID:17506106 PMID:24075189 PMID:25457163 PMID:25741868 More... NCBI chr15:69,851,447...70,266,215
Ensembl chr15:70,096,117...70,264,905 		JBrowse link
G P RARB retinoic acid receptor beta ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 48 ClinVar PMID:14973393 PMID:17506106 PMID:24075189 PMID:25457163 PMID:25741868 More... NCBI chr13:12,336,387...12,507,688
Ensembl chr13:12,336,972...12,507,680 		JBrowse link
G S Rarb retinoic acid receptor beta ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 48 ClinVar PMID:14973393 PMID:17506106 PMID:24075189 PMID:25457163 PMID:25741868 More... NCBI chrNW_004936473:16,983,829...17,146,517
Ensembl chrNW_004936473:16,983,600...17,148,885 		JBrowse link
G D RARB retinoic acid receptor beta ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 48 ClinVar PMID:14973393 PMID:17506106 PMID:24075189 PMID:25457163 PMID:25741868 More... NCBI chr23:18,207,253...18,931,128
Ensembl chr23:18,207,760...18,482,652 		JBrowse link
G B RARB retinoic acid receptor beta ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 48 ClinVar PMID:14973393 PMID:17506106 PMID:24075189 PMID:25457163 PMID:25741868 More... NCBI chr 3:24,729,220...25,499,187
Ensembl chr 3:25,660,922...25,833,297 		JBrowse link
G C Rarb retinoic acid receptor beta ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 48 ClinVar PMID:14973393 PMID:17506106 PMID:24075189 PMID:25457163 PMID:25741868 More... NCBI chrNW_004955430:17,067,536...17,457,558
Ensembl chrNW_004955430:17,295,174...17,460,045 		JBrowse link
G R Rarb retinoic acid receptor, beta ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 48 ClinVar PMID:14973393 PMID:17506106 PMID:24075189 PMID:25457163 PMID:25741868 More... NCBI chr15:10,837,252...11,482,037
Ensembl chr15:8,406,492...9,051,288 		JBrowse link
G M Rarb retinoic acid receptor, beta ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 48 ClinVar PMID:14973393 PMID:17506106 PMID:24075189 PMID:25457163 PMID:25741868 More... NCBI chr14:5,387,365...6,038,924
Ensembl chr14:5,650,540...6,038,924 		JBrowse link
G H RARB retinoic acid receptor beta IAGP ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 48 ClinVar PMID:14973393 PMID:17506106 PMID:24075189 PMID:25457163 PMID:25741868 More... NCBI chr 3:24,829,321...25,597,932
Ensembl chr 3:24,687,887...25,597,932 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 288179
    Developmental Disease 170851
      Neurodevelopmental Disorders 76987
        intellectual disability 45595
          autosomal dominant intellectual developmental disorder 4846
            autosomal dominant intellectual developmental disorder 48 20
Path 2
Term Annotations click to browse term
  disease 288179
    disease of anatomical entity 271815
      nervous system disease 190640
        central nervous system disease 157774
          brain disease 148547
            disease of mental health 111500
              developmental disorder of mental health 63917
                specific developmental disorder 50074
                  intellectual disability 45595
                    autosomal dominant intellectual developmental disorder 4846
                      autosomal dominant intellectual developmental disorder 48 20
paths to the root