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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 term: Klippel-Feil syndrome 2, autosomal recessive OMIM
ClinVar
PMID:23290072 PMID:24073994 NCBI chr10:86,818,450...86,837,563
Ensembl chr10:86,818,478...86,837,660
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 8:87,974,444...87,978,996
Ensembl chr 8:87,974,776...87,978,969
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    syndrome 9456
      Klippel-Feil syndrome 46
        Klippel-Feil syndrome 2 2
Path 2
Term Annotations click to browse term
  disease 18032
    disease of anatomical entity 17412
      musculoskeletal system disease 7137
        connective tissue disease 4900
          bone disease 3578
            bone development disease 1760
              dysostosis 436
                Klippel-Feil syndrome 46
                  Klippel-Feil syndrome 2 2
paths to the root