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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

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Klippel-Feil syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acsm4 acyl-CoA synthetase medium chain family member 4 ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chrNW_004624782:6,862,210...6,885,556
Ensembl chrNW_004624782:6,862,648...6,885,450 		JBrowse link
G Aicda activation induced cytidine deaminase ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chrNW_004624860:4,912,938...4,927,846
Ensembl chrNW_004624860:4,912,656...4,926,634 		JBrowse link
G Apobec1 apolipoprotein B mRNA editing enzyme catalytic subunit 1 ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chrNW_004624860:4,938,001...4,957,640
Ensembl chrNW_004624860:4,938,001...4,957,236 		JBrowse link
G Atn1 atrophin 1 ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chrNW_004624860:3,564,741...3,577,889
Ensembl chrNW_004624860:3,571,254...3,577,400 		JBrowse link
G C1r complement C1r ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chrNW_004624860:3,675,926...3,684,598
Ensembl chrNW_004624860:3,676,252...3,684,406 		JBrowse link
G C1rl complement C1r subcomponent like ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chrNW_004624860:3,686,866...3,693,293
Ensembl chrNW_004624860:3,687,500...3,692,872 		JBrowse link
G C1s complement C1s ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chrNW_004624860:3,658,272...3,667,717
Ensembl chrNW_004624860:3,659,341...3,671,142 		JBrowse link
G C3ar1 complement C3a receptor 1 ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chrNW_004624860:5,196,621...5,204,686
Ensembl chrNW_004624860:5,197,619...5,199,043 		JBrowse link
G Cd163 CD163 molecule ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chrNW_004624860:3,976,746...4,000,349
Ensembl chrNW_004624860:3,975,747...4,000,349 		JBrowse link
G Cdca3 cell division cycle associated 3 ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chrNW_004624860:3,516,244...3,519,107
Ensembl chrNW_004624860:3,515,411...3,518,828 		JBrowse link
G Clec4e C-type lectin domain family 4 member E ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chrNW_004624860:4,108,782...4,113,693
Ensembl chrNW_004624860:4,108,640...4,113,839 		JBrowse link
G Clstn3 calsyntenin 3 ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chrNW_004624860:3,710,121...3,737,617
Ensembl chrNW_004624860:3,709,139...3,738,221 		JBrowse link
G CUNH12orf57 chromosome unknown C12orf57 homolog ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chrNW_004624860:3,578,147...3,580,059
Ensembl chrNW_004624860:3,578,336...3,580,059 		JBrowse link
G Dppa3 developmental pluripotency associated 3 ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chrNW_004624860:4,974,941...4,978,295 JBrowse link
G Emg1 EMG1 N1-specific pseudouridine methyltransferase ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chrNW_004624860:3,605,114...3,611,108
Ensembl chrNW_004624860:3,605,126...3,611,108 		JBrowse link
G Eno2 enolase 2 ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chrNW_004624860:3,553,936...3,561,343
Ensembl chrNW_004624860:3,553,947...3,564,294 		JBrowse link
G Foxj2 forkhead box J2 ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chrNW_004624860:5,176,301...5,195,715
Ensembl chrNW_004624860:5,176,257...5,195,682 		JBrowse link
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 chrNW_004624860:4,968,624...4,970,362 JBrowse link
G Gnb3 G protein subunit beta 3 ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chrNW_004624860:3,509,185...3,515,025
Ensembl chrNW_004624860:3,509,397...3,515,352 		JBrowse link
G Lpcat3 lysophosphatidylcholine acyltransferase 3 ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chrNW_004624860:3,611,300...3,642,682
Ensembl chrNW_004624860:3,611,300...3,642,686 		JBrowse link
G Lrrc23 leucine rich repeat containing 23 ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chrNW_004624860:3,547,199...3,553,763
Ensembl chrNW_004624860:3,547,179...3,553,849 		JBrowse link
G Mfap5 microfibril associated protein 5 ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chrNW_004624860:4,877,811...4,891,149
Ensembl chrNW_004624860:4,881,981...4,888,527 		JBrowse link
G Nanog Nanog homeobox ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chrNW_004624860:5,026,203...5,037,219 JBrowse link
G Necap1 NECAP endocytosis associated 1 ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chrNW_004624860:5,224,170...5,237,235
Ensembl chrNW_004624860:5,223,610...5,237,451 		JBrowse link
G P3h3 prolyl 3-hydroxylase 3 ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chrNW_004624860:3,498,493...3,508,999
Ensembl chrNW_004624860:3,498,547...3,508,682 		JBrowse link
G Pex5 peroxisomal biogenesis factor 5 ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chrNW_004624860:3,771,949...3,790,982
Ensembl chrNW_004624860:3,771,963...3,790,985 		JBrowse link
G Phb2 prohibitin 2 ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chrNW_004624860:3,599,435...3,605,016
Ensembl chrNW_004624860:3,599,687...3,604,872 		JBrowse link
G Ptpn6 protein tyrosine phosphatase non-receptor type 6 ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chrNW_004624860:3,580,225...3,595,403
Ensembl chrNW_004624860:3,580,560...3,595,090 		JBrowse link
G Rbp5 retinol binding protein 5 ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chrNW_004624860:3,705,210...3,709,179
Ensembl chrNW_004624860:3,705,210...3,709,055 		JBrowse link
G Rimklb ribosomal modification protein rimK like family member B ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chrNW_004624860:4,811,449...4,861,470
Ensembl chrNW_004624860:4,811,449...4,844,431 		JBrowse link
G Slc2a3 solute carrier family 2 member 3 ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chrNW_004624860:5,069,246...5,153,435 JBrowse link
G Tpi1 triosephosphate isomerase 1 ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chrNW_004624860:3,533,226...3,536,786
Ensembl chrNW_004624860:3,533,320...3,539,755 		JBrowse link
G Usp5 ubiquitin specific peptidase 5 ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chrNW_004624860:3,519,106...3,532,690
Ensembl chrNW_004624860:3,519,113...3,532,687 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14089
    syndrome 9294
      Klippel-Feil syndrome 44
        Klippel-Feil syndrome 3 33
Path 2
Term Annotations click to browse term
  disease 14089
    disease of anatomical entity 13754
      musculoskeletal system disease 7235
        connective tissue disease 4910
          bone disease 3621
            bone development disease 2143
              dysostosis 530
                Klippel-Feil syndrome 44
                  Klippel-Feil syndrome 3 33
paths to the root