{
    "disease_id": "DOID:0080990",
    "recommended_name": {
        "id": "DOID:0080990",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080990",
        "name": "King Denborough syndrome",
        "description": "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."
    },
    "synonyms": [
        {
            "id": "MONDO:0020485",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020485",
            "name": "King-Denborough syndrome",
            "description": "A rare genetic non-dystrophic myopathy characterized by the triad of congenital myopathy, dysmorphic features and susceptibility to malignant hyperthermia. Patients present with a wide phenotypic range, including delayed motor development, muscle weakness and fatigability, ptosis and facies myopathica (with or without creatine kinase elevations), skeletal abnormalities (e.g. short stature, scoliosis, kyphosis, lumbar lordosis and pectus carinatum/excavatum), mild dysmorphic facial features (e.g. hypertelorism, down-slanting palpebral fissures, epicanthic folds, low set ears, micrognathia), webbing of the neck, cryptorchidism, and a susceptibility to malignant hyperthermia and/or rhabdomyolysis due to intensive physical strain, viral infection or statin use."
        },
        {
            "id": "MONDO:0020485",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020485",
            "name": "Koussef-Nichols syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0020485",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020485",
            "name": "King Denborough syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0020485",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020485",
            "name": "Kousseff Nichols syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0020485",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020485",
            "name": "Noonan like contracture myopathy hyperpyrexia",
            "description": ""
        },
        {
            "id": "MONDO:0020485",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020485",
            "name": "anesthetic-induced malignant hyperpyrexia in children",
            "description": ""
        },
        {
            "id": "MIM:619542",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619542",
            "name": "King-Denborough syndrome",
            "description": "King-Denborough syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080990"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080990",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080990",
            "categories": []
        },
        {
            "id": "MONDO:0020485",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020485",
            "categories": []
        },
        {
            "id": "MIM:619542",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619542",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AB32U3K9-1",
            "uniprot_ac": "A0AB32U3K9",
            "uniprot_id": "A0AB32U3K9_DANRE",
            "refseq_ac": "XP_068079935",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ryanodine receptor 1 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "ryanodine receptor 1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ryr1a",
                    "type": "recommended"
                },
                {
                    "name": "ryr1a",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB32U3K9-1",
            "evidence": [
                {
                    "id": "0080990",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080990"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M6YTI2-1",
            "uniprot_ac": "A0A8M6YTI2",
            "uniprot_id": "A0A8M6YTI2_DANRE",
            "refseq_ac": "XP_017207446",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ryanodine receptor 1",
                    "type": "recommended"
                },
                {
                    "name": "Skeletal muscle calcium release channel",
                    "type": "synonym"
                },
                {
                    "name": "Skeletal muscle ryanodine receptor",
                    "type": "synonym"
                },
                {
                    "name": "Skeletal muscle-type ryanodine receptor",
                    "type": "synonym"
                },
                {
                    "name": "Type 1 ryanodine receptor",
                    "type": "synonym"
                },
                {
                    "name": "ryanodine receptor 1b isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ryr1b",
                    "type": "recommended"
                },
                {
                    "name": "im:7137738",
                    "type": "synonym"
                },
                {
                    "name": "ryr1b",
                    "type": "synonym"
                },
                {
                    "name": "ryrab",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-250i19.1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M6YTI2-1",
            "evidence": [
                {
                    "id": "0080990",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080990"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "E9PZQ0-1",
            "uniprot_ac": "E9PZQ0",
            "uniprot_id": "RYR1_MOUSE",
            "refseq_ac": "NP_033135",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ryanodine receptor 1",
                    "type": "recommended"
                },
                {
                    "name": "RYR-1",
                    "type": "synonym"
                },
                {
                    "name": "RyR1",
                    "type": "synonym"
                },
                {
                    "name": "Skeletal muscle calcium release channel",
                    "type": "synonym"
                },
                {
                    "name": "Skeletal muscle ryanodine receptor",
                    "type": "synonym"
                },
                {
                    "name": "Skeletal muscle-type ryanodine receptor",
                    "type": "synonym"
                },
                {
                    "name": "Type 1 ryanodine receptor",
                    "type": "synonym"
                },
                {
                    "name": "calcium release channel",
                    "type": "synonym"
                },
                {
                    "name": "ryanodine receptor 1",
                    "type": "synonym"
                },
                {
                    "name": "skeletal muscle calcium release channel",
                    "type": "synonym"
                },
                {
                    "name": "skeletal muscle ryanodine receptor",
                    "type": "synonym"
                },
                {
                    "name": "skeletal muscle-type ryanodine receptor",
                    "type": "synonym"
                },
                {
                    "name": "type 1 ryanodine receptor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ryr1",
                    "type": "recommended"
                },
                {
                    "name": "RYR-1",
                    "type": "synonym"
                },
                {
                    "name": "Ryr1",
                    "type": "synonym"
                },
                {
                    "name": "Ryr",
                    "type": "synonym"
                },
                {
                    "name": "skrr",
                    "type": "synonym"
                }
            ],
            "record_id": "E9PZQ0-1",
            "evidence": [
                {
                    "id": "0080990",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080990"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P21817-1",
            "uniprot_ac": "P21817",
            "uniprot_id": "RYR1_HUMAN",
            "refseq_ac": "NP_000531",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ryanodine receptor 1",
                    "type": "recommended"
                },
                {
                    "name": "RYR-1",
                    "type": "synonym"
                },
                {
                    "name": "RyR1",
                    "type": "synonym"
                },
                {
                    "name": "Skeletal muscle calcium release channel",
                    "type": "synonym"
                },
                {
                    "name": "Skeletal muscle ryanodine receptor",
                    "type": "synonym"
                },
                {
                    "name": "Skeletal muscle-type ryanodine receptor",
                    "type": "synonym"
                },
                {
                    "name": "Type 1 ryanodine receptor",
                    "type": "synonym"
                },
                {
                    "name": "central core disease of muscle",
                    "type": "synonym"
                },
                {
                    "name": "protein phosphatase 1, regulatory subunit 137",
                    "type": "synonym"
                },
                {
                    "name": "ryanodine receptor 1 (skeletal)",
                    "type": "synonym"
                },
                {
                    "name": "ryanodine receptor 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "sarcoplasmic reticulum calcium release channel",
                    "type": "synonym"
                },
                {
                    "name": "skeletal muscle calcium release channel",
                    "type": "synonym"
                },
                {
                    "name": "skeletal muscle ryanodine receptor",
                    "type": "synonym"
                },
                {
                    "name": "type 1-like ryanodine receptor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RYR1",
                    "type": "recommended"
                },
                {
                    "name": "CCO",
                    "type": "synonym"
                },
                {
                    "name": "CMYO1A",
                    "type": "synonym"
                },
                {
                    "name": "CMYO1B",
                    "type": "synonym"
                },
                {
                    "name": "CMYP1A",
                    "type": "synonym"
                },
                {
                    "name": "CMYP1B",
                    "type": "synonym"
                },
                {
                    "name": "KDS",
                    "type": "synonym"
                },
                {
                    "name": "MHS1",
                    "type": "synonym"
                },
                {
                    "name": "MHS",
                    "type": "synonym"
                },
                {
                    "name": "PPP1R137",
                    "type": "synonym"
                },
                {
                    "name": "RYDR",
                    "type": "synonym"
                },
                {
                    "name": "RYR-1",
                    "type": "synonym"
                },
                {
                    "name": "RYR1",
                    "type": "synonym"
                },
                {
                    "name": "RYR",
                    "type": "synonym"
                },
                {
                    "name": "SKRR",
                    "type": "synonym"
                }
            ],
            "record_id": "P21817-1",
            "evidence": [
                {
                    "id": "619542",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619542"
                },
                {
                    "id": "0080990",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080990"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1LMY4-1",
            "uniprot_ac": "F1LMY4",
            "uniprot_id": "RYR1_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ryanodine receptor 1",
                    "type": "recommended"
                },
                {
                    "name": "RYR-1",
                    "type": "synonym"
                },
                {
                    "name": "RyR1",
                    "type": "synonym"
                },
                {
                    "name": "Skeletal muscle calcium release channel",
                    "type": "synonym"
                },
                {
                    "name": "Skeletal muscle ryanodine receptor",
                    "type": "synonym"
                },
                {
                    "name": "Skeletal muscle-type ryanodine receptor",
                    "type": "synonym"
                },
                {
                    "name": "Type 1 ryanodine receptor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ryr1",
                    "type": "recommended"
                }
            ],
            "record_id": "F1LMY4-1",
            "evidence": [
                {
                    "id": "0080990",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080990"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q24498-2",
            "uniprot_ac": "Q24498",
            "uniprot_id": "RYR_DROME",
            "refseq_ac": "NP_476991",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ryanodine receptor",
                    "type": "recommended"
                },
                {
                    "name": "CG10844-PA",
                    "type": "synonym"
                },
                {
                    "name": "RyR-PA",
                    "type": "synonym"
                },
                {
                    "name": "Ryanodine receptor 44F",
                    "type": "synonym"
                },
                {
                    "name": "RyanodineR",
                    "type": "synonym"
                },
                {
                    "name": "ryanodine receptor 44F",
                    "type": "synonym"
                },
                {
                    "name": "ryanodine receptor, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "ryanodine receptor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RyR",
                    "type": "recommended"
                },
                {
                    "name": "CG10844",
                    "type": "synonym"
                },
                {
                    "name": "D-RyR",
                    "type": "synonym"
                },
                {
                    "name": "DRR",
                    "type": "synonym"
                },
                {
                    "name": "DRY",
                    "type": "synonym"
                },
                {
                    "name": "DmRyR",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10844",
                    "type": "synonym"
                },
                {
                    "name": "RYR",
                    "type": "synonym"
                },
                {
                    "name": "RyRs",
                    "type": "synonym"
                },
                {
                    "name": "RyR",
                    "type": "synonym"
                },
                {
                    "name": "Rya-44F",
                    "type": "synonym"
                },
                {
                    "name": "Rya-R44F",
                    "type": "synonym"
                },
                {
                    "name": "Rya-r44F",
                    "type": "synonym"
                },
                {
                    "name": "Rya-r4",
                    "type": "synonym"
                },
                {
                    "name": "Rya-r76CD",
                    "type": "synonym"
                },
                {
                    "name": "Ryr",
                    "type": "synonym"
                },
                {
                    "name": "dRyR",
                    "type": "synonym"
                },
                {
                    "name": "dRyr",
                    "type": "synonym"
                },
                {
                    "name": "dry",
                    "type": "synonym"
                },
                {
                    "name": "dya",
                    "type": "synonym"
                },
                {
                    "name": "l(2)k00424",
                    "type": "synonym"
                },
                {
                    "name": "l(2)k04913",
                    "type": "synonym"
                },
                {
                    "name": "rya-r44F",
                    "type": "synonym"
                },
                {
                    "name": "ryr",
                    "type": "synonym"
                }
            ],
            "record_id": "Q24498-2",
            "evidence": [
                {
                    "id": "0080990",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080990"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080990"
}