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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 2
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Accession:DOID:0080590 term browser browse the term
Definition:A Klippel-Feil syndrome that has_material_basis_in homozygous mutation in the MEOX1 gene on chromosome 17q21. (DO)
Synonyms:exact_synonym: KFS2;   Klippel-Feil syndrome 2, autosomal recessive
 primary_id: OMIM:214300
For additional species annotation, visit the Alliance of Genome Resources.


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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 NCBI chr 8:94,676,579...94,691,125
Ensembl chr 8:94,686,938...94,691,041
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    syndrome 7041
      Klippel-Feil syndrome 6
        Klippel-Feil syndrome 2 2
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      musculoskeletal system disease 5799
        connective tissue disease 4166
          bone disease 3538
            bone development disease 1344
              dysostosis 342
                Klippel-Feil syndrome 6
                  Klippel-Feil syndrome 2 2
paths to the root