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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 chr12:49,761,100...49,979,745
Ensembl chr12:49,761,120...49,979,758
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    syndrome 6989
      Klippel-Feil syndrome 6
        Klippel-Feil syndrome 4 1
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      nervous system disease 10863
        peripheral nervous system disease 2472
          neuropathy 2293
            neuromuscular disease 1775
              muscular disease 1196
                muscle tissue disease 809
                  myopathy 665
                    congenital structural myopathy 139
                      nemaline myopathy 58
                        Klippel-Feil syndrome 4 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.