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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:0080990 term browser browse the term
Definition:A myopathy that is characterized by distinctive facies, ptosis, downslanted palpebral fissures, widely spaced eyes, epicanthal folds, low-set ears, malar hypoplasia, micrognathia, high-arched palate, clinodactyly, single palmar crease, pectus excavatum, winging of the scapulae, lumbar lordosis, and mild thoracic scoliosis. Pathogenic variants in RYR1 have been found in some individuals with King-Denborough syndrome. (DO)
Synonyms:exact_synonym: Anesthetic-induced malignant hyperpyrexia in children;   King syndrome
 primary_id: MESH:C536883
 alt_id: DOID:9003967
 xref: GARD:8433;   ORDO:99741
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
ISS
ClinVar Annotator: match by term: King Denborough syndrome
ClinVar Annotator: match by term: King syndrome
OMIM:145600
ClinVar
MouseDO
PMID:11741831 PMID:16084090 PMID:16917943 PMID:18253926 PMID:18564801 PMID:18765655 PMID:19191329 PMID:19191333 PMID:20839240 PMID:21062345 PMID:22992668 PMID:23553484 PMID:24033266 PMID:25741868 PMID:26578207 PMID:27147545 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 17150
    syndrome 8039
      King Denborough syndrome 1
Path 2
Term Annotations click to browse term
  disease 17150
    disease of anatomical entity 16494
      nervous system disease 12094
        peripheral nervous system disease 2527
          neuropathy 2326
            neuromuscular disease 1832
              muscular disease 1231
                muscle tissue disease 823
                  malignant hyperthermia 12
                    King Denborough syndrome 1
paths to the root