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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
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Accession:DOID:10426 term browser browse the term
Definition:A syndrome characterised by a low hairline and a shortened neck resulting from a reduced number of vertebrae or the fusion of multiple hemivertebrae into one osseous mass.
Synonyms:exact_synonym: Cervical vertebral fusion, autosomal dominant;   Cervical vertebral fusion, autosomal recessive;   Dystrophia Brevicollis Congenita;   Dystrophia Brevicollis Congenitas;   KFS;   Kfs, Autosomal Recessive;   Klippel-Feil Sequence;   Klippel-Feil and Turner syndrome;   Klippel-Feil deformity, deafness and facial asymmetry;   autosomal dominant Klippel-Feil syndrome;   autosomal recessive Klippel-Feil syndrome;   cervical fusion syndrome;   congenital dystrophia brevicollis;   congenital synostosis of cervical vertebrae;   vertebral cervical fusion syndrome
 primary_id: MESH:D007714
 alt_id: MESH:C536887;   MESH:C536888;   RDO:0002365
 xref: GARD:10280;   ICD10CM:Q76.1;   ICD9CM:756.16;   NCI:C98967;   OMIM:PS118100;   ORDO:2345
For additional species annotation, visit the Alliance of Genome Resources.


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Klippel-Feil syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gdf6 growth differentiation factor 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Klippel Feil syndrome
CTD
ClinVar
PMID:18425797, PMID:19129173, PMID:23307924, PMID:24033266, PMID:25741868, PMID:32737436 NCBI chr 5:23,056,345...23,072,666
Ensembl chr 5:23,056,347...23,074,599
JBrowse link
G Lrrk2 leucine-rich repeat kinase 2 ISO ClinVar Annotator: match by term: CERVICAL VERTEBRAL FUSION, AUTOSOMAL DOMINANT ClinVar PMID:18412265, PMID:18688798, PMID:18716801, PMID:18781329, PMID:19699188, PMID:20301387, PMID:20642453, PMID:21885347, PMID:25243190, PMID:26930193, PMID:28492532 NCBI chr 7:132,857,311...133,018,549
Ensembl chr 7:132,857,628...133,018,584
JBrowse link
G Meox1 mesenchyme homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:89,797,011...89,817,009
Ensembl chr10:89,797,038...89,816,491
JBrowse link
G Myo18b myosin XVIIIb ISO ClinVar Annotator: match by term: Klippel Feil syndrome ClinVar PMID:25741868 NCBI chr12:49,761,100...49,979,745
Ensembl chr12:49,761,120...49,979,758
JBrowse link
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
ClinVar Annotator: match by OMIM:118100
OMIM
ClinVar
PMID:18425797, PMID:19129173, PMID:20057906, PMID:20494911, PMID:21070663, PMID:22204637, PMID:23307924, PMID:24033266, PMID:25741868, PMID:25741869, PMID:28492532, PMID:32737436 NCBI chr 5:23,056,345...23,072,666
Ensembl chr 5:23,056,347...23,074,599
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, PMID:20301387, PMID:20642453, PMID:21885347, PMID:25243190, PMID:26930193, PMID:28492532 NCBI chr 7:132,857,311...133,018,549
Ensembl chr 7:132,857,628...133,018,584
JBrowse link
Klippel-Feil syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Meox1 mesenchyme homeobox 1 ISO ClinVar Annotator: match by OMIM:214300 OMIM
ClinVar
PMID:23290072, PMID:24073994 NCBI chr10:89,797,011...89,817,009
Ensembl chr10:89,797,038...89,816,491
JBrowse link
G Ripply2 ripply transcriptional repressor 2 ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 2, autosomal recessive ClinVar PMID:25343988, PMID:26238661, PMID:26637979 NCBI chr 8:94,676,579...94,691,125
Ensembl chr 8:94,686,938...94,691,041
JBrowse link
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
JBrowse link
Klippel-Feil syndrome 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo18b myosin XVIIIb ISO ClinVar Annotator: match by term: Klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism ClinVar
OMIM
PMID:25741868, PMID:25748484, PMID:26752647, PMID:27858739, PMID:28492532 NCBI chr12:49,761,100...49,979,745
Ensembl chr12:49,761,120...49,979,758
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    physical disorder 985
      Klippel-Feil syndrome 6
        Calabro Syndrome 0
        Klippel-Feil syndrome 1 2
        Klippel-Feil syndrome 2 2
        Klippel-Feil syndrome 3 1
        Klippel-Feil syndrome 4 1
        Segmentation Syndrome 1 0
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      musculoskeletal system disease 5739
        connective tissue disease 4099
          bone disease 3528
            bone development disease 1335
              dysostosis 342
                Klippel-Feil syndrome 6
                  Calabro Syndrome 0
                  Klippel-Feil syndrome 1 2
                  Klippel-Feil syndrome 2 2
                  Klippel-Feil syndrome 3 1
                  Klippel-Feil syndrome 4 1
                  Segmentation Syndrome 1 0
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.