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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:King Denborough Syndrome
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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.


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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:16084090 PMID:16917943 PMID:18253926 PMID:18765655 PMID:19191329 PMID:19191333 PMID:20839240 PMID:21062345 PMID:22992668 PMID:23553484 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
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    syndrome 7041
      King Denborough Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        peripheral nervous system disease 2498
          neuropathy 2319
            neuromuscular disease 1802
              muscular disease 1218
                muscle tissue disease 829
                  malignant hyperthermia 11
                    King Denborough Syndrome 1
paths to the root