{
    "disease_id": "DOID:0080991",
    "recommended_name": {
        "id": "DOID:0080991",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080991",
        "name": "congenital myopathy 1B",
        "description": "A congenital myopathy that is characterized by multiple areas of reduced mitochondrial oxidative activity running along a limited extent of the longitudinal axis of the muscle fiber, so-called 'minicores' and that has_material_basis_in homozygous or compound heterozygous mutation in the RYR1 gene on chromosome 19q13. Multiminocore disease is broadly classified into four groups: classic form, moderate form with hand involvement, antenatal form with arthrogryposis multiplex congenita, and ophthalmoplegic form."
    },
    "synonyms": [
        {
            "id": "DOID:0080991",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080991",
            "name": "multiminicore disease",
            "description": ""
        },
        {
            "id": "DOID:0080991",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080991",
            "name": "autosomal recessive congenital myopathy 1B",
            "description": ""
        },
        {
            "id": "MONDO:0009712",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009712",
            "name": "congenital multicore myopathy with external ophthalmoplegia",
            "description": "An autosomal recessive condition caused by mutation(s) in the RYR1 gene, encoding ryanodine receptor 1. It may be characterized clinically by neonatal hypotonia, delayed motor development, and generalized muscle weakness, and amyotrophy. Pathologically, the absence of mitochondria and focal disorganization of the sarcomere appear as 'minicores' on ATPase staining as a result of focal defects in oxidative activity."
        },
        {
            "id": "MONDO:0009712",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009712",
            "name": "minicore myopathy, antenatal onset, with arthrogryposis",
            "description": ""
        },
        {
            "id": "MONDO:0009712",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009712",
            "name": "multicore myopathy with external ophthalmoplegia",
            "description": ""
        },
        {
            "id": "MIM:255320",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/255320",
            "name": "Congenital myopathy 1B, autosomal recessive",
            "description": "Congenital myopathy 1B, autosomal recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080991"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080991",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080991",
            "categories": []
        },
        {
            "id": "MONDO:0009712",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009712",
            "categories": []
        },
        {
            "id": "MIM:255320",
            "database": "MIM",
            "url": "https://www.omim.org/entry/255320",
            "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": "0080991",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080991"
                }
            ]
        },
        {
            "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": "0080991",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080991"
                }
            ]
        },
        {
            "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": "0080991",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080991"
                }
            ]
        },
        {
            "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": "255320",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/255320"
                },
                {
                    "id": "0080991",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080991"
                }
            ]
        },
        {
            "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": "0080991",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080991"
                }
            ]
        },
        {
            "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": "0080991",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080991"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080991"
}