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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;   MIM: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 Atm ATM serine/threonine kinase ISO ClinVar Annotator: match by term: Koolen-de Vries syndrome ClinVar PMID:9043869 PMID:10817650 PMID:12815592 PMID:16238588 PMID:17124347 More... NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437 		JBrowse link
G C8h11orf65 similar to human chromosome 11 open reading frame 65 ISO ClinVar Annotator: match by term: Koolen-de Vries syndrome ClinVar PMID:9043869 PMID:10817650 PMID:12815592 PMID:16238588 PMID:17124347 More... NCBI chr 8:53,796,033...53,825,277
Ensembl chr 8:53,796,366...53,824,748 		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
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:610443
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
MouseDO
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 19099
    syndrome 11271
      chromosomal deletion syndrome 1528
        Koolen de Vries syndrome 7
Path 2
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      nervous system disease 14334
        central nervous system disease 12604
          brain disease 11833
            disease of mental health 8425
              developmental disorder of mental health 5646
                specific developmental disorder 4603
                  intellectual disability 4382
                    autosomal dominant intellectual developmental disorder 455
                      Koolen de Vries syndrome 7
paths to the root