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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 1
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Accession:DOID:0070031 term browser browse the term
Definition:An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the MBD5 gene on chromosome 2q23.1. (DO)
Synonyms:exact_synonym: MBD5 associated neurodevelopmental disorder;   MBD5-RELATED CONDITION;   MRD1;   autosomal dominant mental retardation 1;   autosomal dominant non-syndromic intellectual disability 1
 narrow_synonym: CHROMOSOME 2q23.1 DELETION SYNDROME
 primary_id: MESH:C566947
 alt_id: OMIM:156200
 xref: EFO:0009072;   NCI:C141424


show annotations for term's descendants           Sort by:
autosomal dominant intellectual developmental disorder 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acvr2a activin A receptor type 2A ISO ClinVar Annotator: match by term: MBD5 associated neurodevelopmental disorder ClinVar PMID:21981781 PMID:23632792 NCBI chr 3:33,204,961...33,292,673
Ensembl chr 3:33,205,523...33,289,968 		JBrowse link
G Arhgap15 Rho GTPase activating protein 15 ISO ClinVar Annotator: match by term: MBD5 associated neurodevelopmental disorder ClinVar PMID:21981781 PMID:23632792 NCBI chr 3:27,989,368...28,592,722
Ensembl chr 3:27,989,633...28,600,265 		JBrowse link
G Cdh15 cadherin 15 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 1 ClinVar PMID:25741868 NCBI chr19:50,903,757...50,927,151
Ensembl chr19:50,903,638...50,927,105 		JBrowse link
G Cic capicua transcriptional repressor ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 1 ClinVar PMID:25741868 NCBI chr 1:80,853,920...80,880,537
Ensembl chr 1:80,853,920...80,880,532 		JBrowse link
G Epc2 enhancer of polycomb homolog 2 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 1 | ClinVar Annotator: match by term: MBD5 associated neurodevelopmental disorder ClinVar PMID:19904302 PMID:21981781 PMID:23632792 NCBI chr 3:33,867,219...33,967,908
Ensembl chr 3:33,867,219...33,967,150 		JBrowse link
G Gtdc1 glycosyltransferase-like domain containing 1 ISO ClinVar Annotator: match by term: MBD5 associated neurodevelopmental disorder ClinVar PMID:21981781 PMID:23632792 NCBI chr 3:28,766,640...29,161,668
Ensembl chr 3:28,766,645...29,162,271 		JBrowse link
G Kif5c kinesin family member 5C ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 1 | ClinVar Annotator: match by term: MBD5 associated neurodevelopmental disorder ClinVar PMID:19904302 PMID:21981781 PMID:23632792 NCBI chr 3:34,032,082...34,185,597
Ensembl chr 3:34,032,105...34,182,413 		JBrowse link
G Kynu kynureninase ISO ClinVar Annotator: match by term: MBD5 associated neurodevelopmental disorder ClinVar PMID:21981781 PMID:23632792 NCBI chr 3:27,778,646...27,929,470
Ensembl chr 3:27,778,772...27,929,488 		JBrowse link
G Lrp1b LDL receptor related protein 1B ISO ClinVar Annotator: match by term: MBD5 associated neurodevelopmental disorder ClinVar PMID:21981781 PMID:23632792 NCBI chr 3:24,594,302...26,715,037
Ensembl chr 3:24,594,991...26,715,505 		JBrowse link
G Mbd5 methyl-CpG binding domain protein 5 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 1 | ClinVar Annotator: match by term: MBD5 associated neurodevelopmental disorder | ClinVar Annotator: match by term: MBD5-related condition		 OMIM
CTD
ClinVar
RGD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:17847001 PMID:19809484 More... RGD:11554204 NCBI chr 3:33,588,854...33,738,730
Ensembl chr 3:33,333,554...33,730,156 		JBrowse link
G Orc4 origin recognition complex, subunit 4 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 1 | ClinVar Annotator: match by term: MBD5 associated neurodevelopmental disorder ClinVar PMID:19809484 PMID:19904302 PMID:21981781 PMID:23422940 PMID:23587880 More... NCBI chr 3:33,290,844...33,334,022
Ensembl chr 3:33,294,355...33,333,824 		JBrowse link
G Wdfy3 WD repeat and FYVE domain containing 3 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 1 ClinVar PMID:25741868 NCBI chr14:7,578,245...7,810,491
Ensembl chr14:7,606,628...7,810,482 		JBrowse link
G Zeb2 zinc finger E-box binding homeobox 2 ISO ClinVar Annotator: match by term: MBD5 associated neurodevelopmental disorder ClinVar PMID:21981781 PMID:23632792 NCBI chr 3:29,214,581...29,344,890
Ensembl chr 3:29,218,301...29,345,157 		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 1 13
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 1 13
paths to the root