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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:GAND syndrome
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Accession:DOID:0070048 term browser browse the term
Definition:An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay apparent from infancy, with motor delay and moderate to severely impaired intellectual development and that has_material_basis_in an autosomal dominant mutation of the GATAD2B gene on chromosome 1q21.3. (DO)
Synonyms:exact_synonym: GAND;   GATAD2B-related disorder;   MRD18;   autosomal dominant intellectual developmental disorder 18;   autosomal dominant mental retardation 18;   autosomal dominant non-syndromic intellectual disability 18
 primary_id: OMIM:615074
 xref: NCI:C202606


show annotations for term's descendants           Sort by:
GAND syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Creb3l4 cAMP responsive element binding protein 3-like 4 ISO ClinVar Annotator: match by term: GAND SYNDROME ClinVar PMID:21681106 NCBI chr 2:175,690,340...175,695,846
Ensembl chr 2:175,690,335...175,695,932 		JBrowse link
G Crtc2 CREB regulated transcription coactivator 2 ISO ClinVar Annotator: match by term: GAND SYNDROME ClinVar PMID:21681106 NCBI chr 2:175,709,603...175,719,768
Ensembl chr 2:175,709,644...175,719,763 		JBrowse link
G Dennd4b DENN domain containing 4B ISO ClinVar Annotator: match by term: GAND SYNDROME ClinVar PMID:21681106 NCBI chr 2:175,720,473...175,736,425
Ensembl chr 2:175,709,610...175,736,426 		JBrowse link
G Gatad2b GATA zinc finger domain containing 2B ISO
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: GAND SYNDROME | ClinVar Annotator: match by term: GATAD2B-Related Disorder
OMIM:615074		 OMIM
CTD
ClinVar
MouseDO		 PMID:9536098 PMID:11756549 PMID:17576681 PMID:21681106 PMID:23033978 More... NCBI chr 2:175,748,594...175,829,837
Ensembl chr 2:175,749,433...175,825,542 		JBrowse link
G Jtb jumping translocation breakpoint ISO ClinVar Annotator: match by term: GAND SYNDROME ClinVar PMID:21681106 NCBI chr 2:175,685,392...175,689,609
Ensembl chr 2:175,684,993...175,690,108 		JBrowse link
G Nup210l nucleoporin 210-like ISO ClinVar Annotator: match by term: GAND SYNDROME ClinVar PMID:21681106 NCBI chr 2:175,545,999...175,665,332
Ensembl chr 2:175,547,988...175,665,332 		JBrowse link
G Rab13 RAB13, member RAS oncogene family ISO ClinVar Annotator: match by term: GAND SYNDROME ClinVar PMID:21681106 NCBI chr 2:175,674,894...175,680,043
Ensembl chr 2:175,675,005...175,680,036 		JBrowse link
G Rps27 ribosomal protein S27 ISO ClinVar Annotator: match by term: GAND SYNDROME ClinVar PMID:21681106 NCBI chr 2:175,665,858...175,666,963
Ensembl chr 2:175,665,853...175,666,964 		JBrowse link
G Slc39a1 solute carrier family 39 member 1 ISO ClinVar Annotator: match by term: GAND SYNDROME ClinVar PMID:21681106 NCBI chr 2:175,703,413...175,709,063
Ensembl chr 2:175,703,441...175,709,058 		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
            GAND syndrome 9
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
                      GAND syndrome 9
paths to the root