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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:Klippel-Feil syndrome 1
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Accession:DOID:0080589 term browser browse the term
Definition:A Klippel-Feil syndrome that has_material_basis_in heterozygous mutation in the GDF6 gene on chromosome 8q22. (DO)
Synonyms:exact_synonym: KFS1;   Klippel-Feil syndrome 1, autosomal dominant;   Klippel-Feil syndrome 1, dominant type
 primary_id: OMIM:118100
For additional species annotation, visit the Alliance of Genome Resources.



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Klippel-Feil syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gdf6 growth differentiation factor 6 ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 1, autosomal dominant OMIM
ClinVar
PMID:18425797 PMID:19129173 PMID:20057906 PMID:20494911 PMID:21070663 More... NCBI chr 5:22,996,246...23,012,567
Ensembl chr 5:22,996,246...23,012,567
JBrowse link
G Lrrk2 leucine-rich repeat kinase 2 ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 1, autosomal dominant ClinVar PMID:18412265 PMID:18688798 PMID:18716801 PMID:18781329 PMID:19699188 More... NCBI chr 7:122,826,712...122,987,711
Ensembl chr 7:122,826,696...122,987,703
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17256
    syndrome 8152
      Klippel-Feil syndrome 46
        Klippel-Feil syndrome 1 2
Path 2
Term Annotations click to browse term
  disease 17256
    disease of anatomical entity 16600
      musculoskeletal system disease 6447
        connective tissue disease 4433
          bone disease 3116
            bone development disease 1424
              dysostosis 394
                Klippel-Feil syndrome 46
                  Klippel-Feil syndrome 1 2
paths to the root