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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


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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 PMID:25741868 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...87,979,002
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 18969
    syndrome 10889
      Klippel-Feil syndrome 52
        Klippel-Feil syndrome 2 2
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      musculoskeletal system disease 8306
        connective tissue disease 5787
          bone disease 4302
            bone development disease 2307
              dysostosis 578
                Klippel-Feil syndrome 52
                  Klippel-Feil syndrome 2 2
paths to the root