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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 3
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Accession:DOID:0080591 term browser browse the term
Definition:A Klippel-Feil syndrome that has_material_basis_in heterozygous mutation in the GDF3 gene on chromosome 12p13. (DO)
Synonyms:exact_synonym: KFS3;   Klippel-Feil syndrome 3, autosomal dominant
 primary_id: OMIM:613702
For additional species annotation, visit the Alliance of Genome Resources.


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Klippel-Feil syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gdf3 growth differentiation factor 3 ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant OMIM
ClinVar
PMID:19864492, PMID:25741868, PMID:28492532, PMID:29735971 NCBI chr 4:155,417,667...155,422,014
Ensembl chr 4:155,417,004...155,421,998
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    syndrome 6992
      Klippel-Feil syndrome 6
        Klippel-Feil syndrome 3 1
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      musculoskeletal system disease 5715
        connective tissue disease 4073
          bone disease 3528
            bone development disease 1330
              dysostosis 342
                Klippel-Feil syndrome 6
                  Klippel-Feil syndrome 3 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.