Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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 CTBP1 C-terminal binding protein 1 IAGP ClinVar Annotator: match by term: Wittwer syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:1,211,445...1,250,355
Ensembl chr 4:1,211,445...1,250,333
JBrowse link
G FGFRL1 fibroblast growth factor receptor like 1 IAGP ClinVar Annotator: match by term: Wittwer syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:1,010,212...1,026,898
Ensembl chr 4:1,009,936...1,026,898
JBrowse link
G LETM1 leucine zipper and EF-hand containing transmembrane protein 1 IAGP ClinVar Annotator: match by term: Wittwer syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:1,811,479...1,856,156
Ensembl chr 4:1,811,479...1,856,156
JBrowse link
G NSD2 nuclear receptor binding SET domain protein 2 IAGP ClinVar Annotator: match by term: Wittwer syndrome ClinVar PMID:11252005 PMID:25741868 PMID:28492532 PMID:29760529 PMID:29892088 More... NCBI chr 4:1,871,393...1,982,192
Ensembl chr 4:1,871,393...1,982,207
JBrowse link
G NUF2 NUF2 component of NDC80 kinetochore complex IAGP ClinVar Annotator: match by term: Wittwer syndrome ClinVar NCBI chr 1:163,321,954...163,355,759
Ensembl chr 1:163,266,576...163,355,764
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 40721
    syndrome 17731
      Wittwer Syndrome 5
Path 2
Term Annotations click to browse term
  disease 40721
    Pathological Conditions, Signs and Symptoms 20960
      Signs and Symptoms 16039
        Neurologic Manifestations 15108
          sensory system disease 9668
            Otorhinolaryngologic Diseases 2265
              auditory system disease 1331
                Hearing Disorders 1131
                  Hearing Loss 1125
                    Deafness 635
                      Deaf-Blind Disorders 239
                        Wittwer Syndrome 5
paths to the root