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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


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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:16940 PMID:18253 PMID:18564 PMID:1329581 PMID:1510267 More... NCBI chr 1:84,292,578...84,423,799
Ensembl chr 1:84,292,578...84,423,812 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21089
    syndrome 10784
      King Denborough syndrome 1
Path 2
Term Annotations click to browse term
  disease 21089
    disease of anatomical entity 18156
      nervous system disease 13996
        peripheral nervous system disease 4059
          neuropathy 3838
            neuromuscular disease 3023
              muscular disease 2110
                muscle tissue disease 1261
                  malignant hyperthermia 12
                    King Denborough syndrome 1
paths to the root