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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 Fgfrl1 fibroblast growth factor receptor-like 1 ISO ClinVar Annotator: match by term: Wittwer syndrome ClinVar PMID:25741868 NCBI chr14:1,009,863...1,022,620
Ensembl chr14:1,009,786...1,021,928
JBrowse link
G Letm1 leucine zipper and EF-hand containing transmembrane protein 1 ISO ClinVar Annotator: match by term: Wittwer syndrome ClinVar PMID:25741868 NCBI chr14:76,942,647...76,982,220
Ensembl chr14:76,942,729...76,984,904
JBrowse link
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 chr14:76,833,194...76,911,304
Ensembl chr14:76,835,637...76,913,641
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    syndrome 8125
      Wittwer Syndrome 3
Path 2
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      nervous system disease 12097
        central nervous system disease 10373
          brain disease 9736
            disease of mental health 7038
              developmental disorder of mental health 4374
                specific developmental disorder 3633
                  intellectual disability 3444
                    syndromic intellectual disability 761
                      Mental Retardation, X-Linked 719
                        Wittwer Syndrome 3
paths to the root