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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


show annotations for term's descendants           Sort by:
Wittwer Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cplx1 complexin 1 ISO ClinVar Annotator: match by term: WITTWER SYNDROME ClinVar PMID:25741868 PMID:28422131 PMID:28492532 NCBI chr14:1,329,073...1,360,781
Ensembl chr14:1,329,032...1,360,769 		JBrowse link
G Ctbp1 C-terminal binding protein 1 ISO ClinVar Annotator: match by term: Wittwer syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr14:81,679,956...81,707,331
Ensembl chr14:81,679,765...81,707,554 		JBrowse link
G Fgfrl1 fibroblast growth factor receptor-like 1 ISO ClinVar Annotator: match by term: Wittwer syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr14:1,154,275...1,166,334
Ensembl chr14:1,154,275...1,166,752 		JBrowse link
G Letm1 leucine zipper and EF-hand containing transmembrane protein 1 ISO ClinVar Annotator: match by term: Wittwer syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr14:81,167,268...81,206,776
Ensembl chr14:81,162,309...81,209,459 		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:28492532 PMID:29760529 PMID:29892088 More... NCBI chr14:81,057,727...81,135,866
Ensembl chr14:81,057,727...81,123,027 		JBrowse link
G Nuf2 NUF2 component of NDC80 kinetochore complex ISO ClinVar Annotator: match by term: Wittwer syndrome ClinVar NCBI chr13:84,226,448...84,290,957
Ensembl chr13:84,226,509...84,255,598 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19151
    syndrome 11439
      Wittwer Syndrome 6
Path 2
Term Annotations click to browse term
  disease 19151
    Pathological Conditions, Signs and Symptoms 13671
      Signs and Symptoms 11242
        Neurologic Manifestations 10487
          sensory system disease 7403
            Otorhinolaryngologic Diseases 1809
              auditory system disease 1074
                Hearing Disorders 858
                  Hearing Loss 853
                    Deafness 393
                      Deaf-Blind Disorders 84
                        Wittwer Syndrome 6
paths to the root