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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:chromosome Xp11.22 duplication syndrome
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Accession:DOID:0112037 term browser browse the term
Definition:A non-syndromic X-linked intellectual disability characterized by moderate intellectual disability and slow speech development that has_material_basis_in duplication of a small region within chromosome Xp11.22 involving both HSD17B10 and HUWE1. (DO)
Synonyms:exact_synonym: MRX17;   MRX31;   X-linked mental retardation 17;   X-linked mental retardation 31;   Xp11.22 microduplication syndrome
 alt_id: MESH:C563140;   MESH:C563147
 pimary_id: OMIM:300705
For additional species annotation, visit the Alliance of Genome Resources.


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chromosome Xp11.22 duplication syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hsd17b10 hydroxysteroid (17-beta) dehydrogenase 10 ISO OMIM NCBI chr  X:21,696,796...21,699,241
Ensembl chr  X:21,696,772...21,699,241
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16937
    syndrome 7656
      chromosomal duplication syndrome 750
        chromosome Xp11.22 duplication syndrome 1
Path 2
Term Annotations click to browse term
  disease 16937
    disease of anatomical entity 16303
      nervous system disease 11877
        central nervous system disease 10208
          brain disease 9580
            disease of mental health 6937
              developmental disorder of mental health 4277
                specific developmental disorder 3535
                  intellectual disability 3388
                    syndromic intellectual disability 752
                      Mental Retardation, X-Linked 717
                        non-syndromic X-linked intellectual disability 38
                          chromosome Xp11.22 duplication syndrome 1
paths to the root