{
    "disease_id": "DOID:0081352",
    "recommended_name": {
        "id": "DOID:0081352",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081352",
        "name": "congenital myopathy 20",
        "description": "A congenital myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the RYR3 gene on chromosome 15q13 and that shows wide phenotypic variability. Some patients present in early childhood with proximal muscle weakness affecting the lower and upper limbs resulting in difficulties running and climbing, whereas others present soon after birth with congenital limb or distal contractures."
    },
    "synonyms": [
        {
            "id": "MONDO:0957215",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0957215",
            "name": "congenital myopathy 20",
            "description": ""
        },
        {
            "id": "MIM:620310",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620310",
            "name": "Congenital myopathy 20",
            "description": "Congenital myopathy 20"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081352"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081352",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081352",
            "categories": []
        },
        {
            "id": "MONDO:0957215",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0957215",
            "categories": []
        },
        {
            "id": "MIM:620310",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620310",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M3ALN1-1",
            "uniprot_ac": "A0A8M3ALN1",
            "uniprot_id": "A0A8M3ALN1_DANRE",
            "refseq_ac": "XP_009293048",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ryanodine receptor 3 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "ryanodine receptor 3 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ryr3",
                    "type": "recommended"
                },
                {
                    "name": "ryr3",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M3ALN1-1",
            "evidence": [
                {
                    "id": "0081352",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081352"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A2AGL3-1",
            "uniprot_ac": "A2AGL3",
            "uniprot_id": "RYR3_MOUSE",
            "refseq_ac": "XP_017172194",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ryanodine receptor 3",
                    "type": "recommended"
                },
                {
                    "name": "Brain ryanodine receptor-calcium release channel",
                    "type": "synonym"
                },
                {
                    "name": "Brain-type ryanodine receptor",
                    "type": "synonym"
                },
                {
                    "name": "RYR-3",
                    "type": "synonym"
                },
                {
                    "name": "RyR3",
                    "type": "synonym"
                },
                {
                    "name": "Type 3 ryanodine receptor",
                    "type": "synonym"
                },
                {
                    "name": "ryanodine receptor 3 isoform X3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ryr3",
                    "type": "recommended"
                },
                {
                    "name": "C230090H21",
                    "type": "synonym"
                },
                {
                    "name": "RYR-3",
                    "type": "synonym"
                },
                {
                    "name": "Ryr3",
                    "type": "synonym"
                }
            ],
            "record_id": "A2AGL3-1",
            "evidence": [
                {
                    "id": "0081352",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081352"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q15413-1",
            "uniprot_ac": "Q15413",
            "uniprot_id": "RYR3_HUMAN",
            "refseq_ac": "NP_001027",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ryanodine receptor 3",
                    "type": "recommended"
                },
                {
                    "name": "Brain ryanodine receptor-calcium release channel",
                    "type": "synonym"
                },
                {
                    "name": "Brain-type ryanodine receptor",
                    "type": "synonym"
                },
                {
                    "name": "RYR-3",
                    "type": "synonym"
                },
                {
                    "name": "RyR3",
                    "type": "synonym"
                },
                {
                    "name": "Type 3 ryanodine receptor",
                    "type": "synonym"
                },
                {
                    "name": "brain ryanodine receptor-calcium release channel",
                    "type": "synonym"
                },
                {
                    "name": "brain-type ryanodine receptor",
                    "type": "synonym"
                },
                {
                    "name": "ryanodine receptor 3 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "type 3 ryanodine receptor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RYR3",
                    "type": "recommended"
                },
                {
                    "name": "CMYO20",
                    "type": "synonym"
                },
                {
                    "name": "CMYP20",
                    "type": "synonym"
                },
                {
                    "name": "HBRR",
                    "type": "synonym"
                },
                {
                    "name": "RYR-3",
                    "type": "synonym"
                },
                {
                    "name": "RYR3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q15413-1",
            "evidence": [
                {
                    "id": "620310",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620310"
                },
                {
                    "id": "0081352",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081352"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LPH6-1",
            "uniprot_ac": "A0ABK0LPH6",
            "uniprot_id": "A0ABK0LPH6_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ryanodine receptor 3",
                    "type": "recommended"
                },
                {
                    "name": "Brain ryanodine receptor-calcium release channel",
                    "type": "synonym"
                },
                {
                    "name": "Brain-type ryanodine receptor",
                    "type": "synonym"
                },
                {
                    "name": "Type 3 ryanodine receptor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ryr3",
                    "type": "recommended"
                }
            ],
            "record_id": "A0ABK0LPH6-1",
            "evidence": [
                {
                    "id": "0081352",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081352"
                }
            ]
        },
        {
            "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": "0081352",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081352"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081352"
}