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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:Wittwer Syndrome
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Accession:DOID:9001308 term browser browse the term
Synonyms:exact_synonym: X-Linked Mental Retardation Type Wittwer;   X-linked mental retardation syndrome, Wittwer type
 primary_id: MESH:C536737;   MESH:C536760
 alt_id: RDO:0002403;   RDO:0002439
For additional species annotation, visit the Alliance of Genome Resources.

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Wittwer Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nsd2 nuclear receptor binding SET domain protein 2 ISO ClinVar Annotator: match by term: Wittwer syndrome ClinVar PMID:11252005, PMID:25741868, PMID:29760529, PMID:29892088, PMID:30345613 NCBI chr14:82,119,210...82,196,501
Ensembl chr14:82,119,210...82,171,480 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      Wittwer Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        central nervous system disease 9021
          brain disease 8346
            disease of mental health 6015
              developmental disorder of mental health 3136
                specific developmental disorder 2310
                  intellectual disability 2131
                    syndromic intellectual disability 684
                      Mental Retardation, X-Linked 661
                        Wittwer Syndrome 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.