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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:Koolen de Vries syndrome
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Accession:DOID:0050880 term browser browse the term
Definition:A syndrome that is characterized by developmental delay, intellectual disability, muscle weakness (hypotonia), epilepsy, distinctive facial features and congenital malformations of the heart, urogenital tract and the central nervous system, and has_material_basis_in either a chromosome 17 (17q21.31) microdeletion or a mutation in the KANSL1-gene. (DO)
Synonyms:exact_synonym: 17q21.31 deletion syndrome;   17q21.31 microdeletion syndrome;   Chromosome 17q21.31 Deletion Syndrome;   Chromosome 17q21.31 Microdeletion Syndrome;   KANSL1-RELATED CONDITION;   KANSL1-related intellectual disability syndrome;   KDVS;   Koolen syndrome;   monosomy 17q21.31
 primary_id: MESH:C566476
 alt_id: DOID:0070076;   OMIM:610443;   RDO:0014820
 xref: GARD:10727;   ORDO:96169


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Koolen de Vries syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arf2 ADP-ribosylation factor 2 ISO ClinVar Annotator: match by term: Koolen-de Vries syndrome ClinVar PMID:25741868 NCBI chr10:88,867,836...88,889,654
Ensembl chr10:88,867,836...88,889,659 		JBrowse link
G Crhr1 corticotropin releasing hormone receptor 1 ISO ClinVar Annotator: match by term: Koolen-de Vries syndrome ClinVar PMID:18628315 PMID:21094706 PMID:28492532 NCBI chr10:89,040,186...89,083,481
Ensembl chr10:89,040,203...89,083,481 		JBrowse link
G Kansl1 KAT8 regulatory NSL complex subunit 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: KANSL1-Related Intellectual Disability Syndrome | ClinVar Annotator: match by term: KANSL1-related condition | ClinVar Annotator: match by term: Koolen-de Vries syndrome		 OMIM
CTD
ClinVar		 PMID:2544363 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18628315 More... NCBI chr10:89,237,667...89,368,735
Ensembl chr10:89,237,667...89,366,951 		JBrowse link
G Mapt microtubule-associated protein tau ISO ClinVar Annotator: match by term: KANSL1-Related Intellectual Disability Syndrome | ClinVar Annotator: match by term: Koolen-de Vries syndrome ClinVar PMID:18628315 PMID:21094706 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr10:89,138,644...89,236,137
Ensembl chr10:89,138,627...89,236,129 		JBrowse link
G Sppl2c signal peptide peptidase like 2C ISO ClinVar Annotator: match by term: Koolen-de Vries syndrome ClinVar PMID:18628315 PMID:21094706 PMID:28492532 NCBI chr10:89,095,279...89,097,487
Ensembl chr10:89,095,261...89,098,580 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10889
      chromosomal deletion syndrome 1495
        Koolen de Vries syndrome 5
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        central nervous system disease 12432
          brain disease 11669
            disease of mental health 8321
              developmental disorder of mental health 5554
                specific developmental disorder 4518
                  intellectual disability 4300
                    autosomal dominant intellectual developmental disorder 447
                      Koolen de Vries syndrome 5
paths to the root