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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 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 JBrowse Chr Start Stop Reference
G Kansl1 KAT8 regulatory NSL complex subunit 1 JBrowse link 10 92,388,045 92,517,449 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14759
    syndrome 4210
      chromosomal deletion syndrome 324
        Koolen de Vries syndrome 1
Path 2
Term Annotations click to browse term
  disease 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        central nervous system disease 6892
          brain disease 6396
            disease of mental health 4314
              developmental disorder of mental health 2584
                specific developmental disorder 1319
                  intellectual disability 1146
                    non-syndromic intellectual disability 159
                      autosomal dominant non-syndromic intellectual disability 84
                        Koolen de Vries syndrome 1
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