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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:An autosomal recessive disorder characterized mainly by severe hypotonia apparent from infancy. (OMIM)
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
 primary_id: OMIM:616549
 xref: ORDO:447974
For additional species annotation, visit the Alliance of Genome Resources.



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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 ClinVar Annotator: match by term: Klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism ClinVar
OMIM
PMID:25741868 PMID:25748484 PMID:26752647 PMID:27858739 PMID:28492532 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 17289
    syndrome 8166
      Klippel-Feil syndrome 46
        Klippel-Feil syndrome 4 1
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        peripheral nervous system disease 2565
          neuropathy 2360
            neuromuscular disease 1879
              muscular disease 1283
                muscle tissue disease 832
                  myopathy 666
                    congenital structural myopathy 157
                      nemaline myopathy 63
                        Klippel-Feil syndrome 4 1
paths to the root