{
    "disease_id": "DOID:0110650",
    "recommended_name": {
        "id": "DOID:0110650",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110650",
        "name": "long QT syndrome 9",
        "description": "A long QT syndrome that has_material_basis_in mutation of the CAV3 gene on chromosome 3p25.3."
    },
    "synonyms": [
        {
            "id": "DOID:0110650",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110650",
            "name": "LQT9",
            "description": ""
        },
        {
            "id": "MONDO:0012736",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012736",
            "name": "long QT syndrome 9",
            "description": "Any long QT syndrome in which the cause of the disease is a mutation in the CAV3 gene."
        },
        {
            "id": "MONDO:0012736",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012736",
            "name": "CAV3 long QT syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012736",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012736",
            "name": "LQT9",
            "description": ""
        },
        {
            "id": "MONDO:0012736",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012736",
            "name": "long QT syndrome 9",
            "description": ""
        },
        {
            "id": "MONDO:0012736",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012736",
            "name": "long QT syndrome caused by mutation in CAV3",
            "description": ""
        },
        {
            "id": "MONDO:0012736",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012736",
            "name": "long QT syndrome type 9",
            "description": ""
        },
        {
            "id": "MIM:611818",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/611818",
            "name": "Long QT syndrome 9",
            "description": "Long QT syndrome 9"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110650"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110650",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110650",
            "categories": []
        },
        {
            "id": "MONDO:0012736",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012736",
            "categories": []
        },
        {
            "id": "MIM:611818",
            "database": "MIM",
            "url": "https://www.omim.org/entry/611818",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P51637-1",
            "uniprot_ac": "P51637",
            "uniprot_id": "CAV3_MOUSE",
            "refseq_ac": "NP_031643",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Caveolin-3",
                    "type": "recommended"
                },
                {
                    "name": "M-caveolin",
                    "type": "synonym"
                },
                {
                    "name": "caveolin-3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cav3",
                    "type": "recommended"
                },
                {
                    "name": "Cav-3",
                    "type": "synonym"
                },
                {
                    "name": "Cav3",
                    "type": "synonym"
                },
                {
                    "name": "M-cav",
                    "type": "synonym"
                }
            ],
            "record_id": "P51637-1",
            "evidence": [
                {
                    "id": "0110650",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110650"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P56539-1",
            "uniprot_ac": "P56539",
            "uniprot_id": "CAV3_HUMAN",
            "refseq_ac": "NP_001225",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Caveolin-3",
                    "type": "recommended"
                },
                {
                    "name": "M-caveolin",
                    "type": "synonym"
                },
                {
                    "name": "caveolin-3",
                    "type": "synonym"
                },
                {
                    "name": "cavolin 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CAV3",
                    "type": "recommended"
                },
                {
                    "name": "CAV3",
                    "type": "synonym"
                },
                {
                    "name": "LGMD1C",
                    "type": "synonym"
                },
                {
                    "name": "LQT9",
                    "type": "synonym"
                },
                {
                    "name": "MPDT",
                    "type": "synonym"
                },
                {
                    "name": "RMD2",
                    "type": "synonym"
                },
                {
                    "name": "VIP-21",
                    "type": "synonym"
                },
                {
                    "name": "VIP21",
                    "type": "synonym"
                }
            ],
            "record_id": "P56539-1",
            "evidence": [
                {
                    "id": "611818",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/611818"
                },
                {
                    "id": "0110650",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110650"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P51638-1",
            "uniprot_ac": "P51638",
            "uniprot_id": "CAV3_RAT",
            "refseq_ac": "NP_062028",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Caveolin-3",
                    "type": "recommended"
                },
                {
                    "name": "caveolin-3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cav3",
                    "type": "recommended"
                },
                {
                    "name": "Cav3",
                    "type": "synonym"
                }
            ],
            "record_id": "P51638-1",
            "evidence": [
                {
                    "id": "0110650",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110650"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110650"
}