Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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:King Denborough Syndrome
go back to main search page
Accession:DOID:9003967 term browser browse the term
Synonyms:exact_synonym: Anesthetic-induced malignant hyperpyrexia in children;   King syndrome
 primary_id: MESH:C536883;   RDO:0002599
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
King Denborough Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: King Denborough syndrome
ClinVar Annotator: match by term: King syndrome
ClinVar PMID:4149045, PMID:8661021, PMID:9199552, PMID:16084090, PMID:16163667, PMID:16380615, PMID:16917943, PMID:18253926, PMID:18765655, PMID:19191329, PMID:19191333, PMID:20583297, PMID:20839240, PMID:21062345, PMID:22992668, PMID:23394784, PMID:23553484, PMID:23919265, PMID:25741868, PMID:26578207, PMID:27646467, PMID:28492532, PMID:30155738, PMID:30236257 NCBI chr 1:87,959,596...88,066,252
Ensembl chr 1:87,959,712...88,066,101
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    syndrome 6992
      King Denborough Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        peripheral nervous system disease 2472
          neuropathy 2293
            neuromuscular disease 1775
              muscular disease 1196
                muscle tissue disease 809
                  malignant hyperthermia 9
                    King Denborough Syndrome 1
paths to the root

NHLBI Logo

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