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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 the HSD17B10 and HUWE1 genes. (DO)
Synonyms:exact_synonym: MRX17;   MRX31;   X-linked mental retardation 17;   X-linked mental retardation 31;   Xp11.22 microduplication syndrome
 broad_synonym: HUWE1-RELATED DISORDER;   HUWE1-RELATED NEURODEVELOPMENTAL DISORDER
 primary_id: OMIM:300705
 alt_id: MESH:C563140;   MESH:C563147

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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 N Huwe1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: HUWE1-Related Disorder ClinVar NCBI chrNW_004624909:745,141...891,421
Ensembl chrNW_004624909:745,651...859,233 		JBrowse link
G G HUWE1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: HUWE1-Related Disorder ClinVar NCBI chr  X:49,661,506...49,814,551
Ensembl chr  X:49,660,790...49,808,572 		JBrowse link
G P HUWE1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: HUWE1-Related Disorder ClinVar NCBI chr  X:46,281,958...46,444,315
Ensembl chr  X:46,281,967...46,444,228 		JBrowse link
G S Huwe1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: HUWE1-Related Disorder ClinVar NCBI chrNW_004936751:478,978...622,818
Ensembl chrNW_004936751:478,300...622,820 		JBrowse link
G D HUWE1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: HUWE1-Related Disorder ClinVar NCBI chr  X:45,234,666...45,409,641
Ensembl chr  X:45,234,322...45,410,043 		JBrowse link
G B HUWE1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: HUWE1-Related Disorder ClinVar NCBI chr  X:45,746,228...45,897,250
Ensembl chr  X:53,855,404...54,005,366 		JBrowse link
G C Huwe1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: HUWE1-Related Disorder ClinVar NCBI chrNW_004955475:550,643...671,771
Ensembl chrNW_004955475:551,159...671,747 		JBrowse link
G R Huwe1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: HUWE1-Related Disorder ClinVar NCBI chr  X:20,873,795...21,001,378
Ensembl chr  X:20,873,795...21,001,262 		JBrowse link
G M Huwe1 HECT, UBA and WWE domain containing 1 ISO ClinVar Annotator: match by term: HUWE1-Related Disorder ClinVar NCBI chr  X:150,583,779...150,718,413
Ensembl chr  X:150,583,803...150,718,413 		JBrowse link
G H HUWE1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 IAGP ClinVar Annotator: match by term: HUWE1-Related Disorder ClinVar NCBI chr  X:53,532,096...53,686,719
Ensembl chr  X:53,532,096...53,686,752 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 199753
    syndrome 107420
      chromosomal duplication syndrome 11591
        chromosome Xp11.22 duplication syndrome 10
Path 2
Term Annotations click to browse term
  disease 199753
    disease of anatomical entity 168001
      nervous system disease 142643
        central nervous system disease 127610
          brain disease 119665
            disease of mental health 87649
              developmental disorder of mental health 59885
                specific developmental disorder 46549
                  intellectual disability 44575
                    X-Linked Intellectual Developmental Disorders 8252
                      non-syndromic X-linked intellectual disability 480
                        chromosome Xp11.22 duplication syndrome 10
paths to the root