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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 4
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Accession:DOID:0080592 term browser browse the term
Definition:A Klippel-Feil syndrome that has_material_basis_in homozygous mutation in the MYO18B gene on chromosome 22q12. (DO)
Synonyms:exact_synonym: KFS4;   Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism;   Klippel-Feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism;   MYO18B-RELATED CONDITION
 primary_id: OMIM:616549
 xref: ORDO:447974



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Klippel-Feil syndrome 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo18b myosin XVIIIb ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism | ClinVar Annotator: match by term: Klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism | ClinVar Annotator: match by term: MYO18B-related condition
OMIM
CTD
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:25741868 PMID:25748484 More... NCBI chr12:43,747,003...43,953,694
Ensembl chr12:43,747,010...43,953,695
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10832
      Klippel-Feil syndrome 52
        Klippel-Feil syndrome 4 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      nervous system disease 14060
        peripheral nervous system disease 4107
          neuropathy 3892
            neuromuscular disease 3051
              muscular disease 2141
                muscle tissue disease 1288
                  myopathy 1003
                    congenital myopathy 238
                      nemaline myopathy 66
                        Klippel-Feil syndrome 4 1
paths to the root