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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: MIM:118100


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Klippel-Feil syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfap418 cilia and flagella associated protein 418 ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 1, autosomal dominant ClinVar PMID:24442880 PMID:28492532 NCBI chr 5:23,996,395...24,015,609
Ensembl chr 5:23,996,718...24,015,605 		JBrowse link
G Gdf6 growth differentiation factor 6 ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 1, autosomal dominant OMIM
ClinVar		 PMID:9129173 PMID:18425797 PMID:19129173 PMID:19864492 PMID:20057906 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 7:122,826,696...122,987,711
Ensembl chr 7:122,826,696...122,987,703 		JBrowse link
G Mterf3 mitochondrial transcription termination factor 3 ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 1, autosomal dominant ClinVar PMID:24442880 PMID:28492532 NCBI chr 7:63,826,418...63,844,747
Ensembl chr 7:63,826,427...63,844,658 		JBrowse link
G Ndufaf6 NADH:ubiquinone oxidoreductase complex assembly factor 6 ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 1, autosomal dominant ClinVar PMID:24442880 PMID:28492532 NCBI chr 5:24,147,712...24,171,981
Ensembl chr 5:24,147,735...24,171,951 		JBrowse link
G Plekhf2 pleckstrin homology and FYVE domain containing 2 ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 1, autosomal dominant ClinVar PMID:24442880 PMID:28492532 NCBI chr 5:24,091,077...24,106,758
Ensembl chr 5:24,090,688...24,106,601 		JBrowse link
G Ptdss1 phosphatidylserine synthase 1 ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 1, autosomal dominant ClinVar PMID:24442880 PMID:28492532 NCBI chr 7:63,845,017...63,906,791
Ensembl chr 7:63,844,268...63,906,791 		JBrowse link
G Uqcrb ubiquinol-cytochrome c reductase binding protein ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 1, autosomal dominant ClinVar PMID:24442880 PMID:28492532 NCBI chr 7:63,814,784...63,820,150
Ensembl chr 7:63,814,797...63,820,150 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    syndrome 11270
      Klippel-Feil syndrome 52
        Klippel-Feil syndrome 1 8
Path 2
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      musculoskeletal system disease 8488
        connective tissue disease 5958
          bone disease 4411
            bone development disease 2373
              dysostosis 632
                Klippel-Feil syndrome 52
                  Klippel-Feil syndrome 1 8
paths to the root