{
    "disease_id": "DOID:0110651",
    "recommended_name": {
        "id": "DOID:0110651",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110651",
        "name": "long QT syndrome 10",
        "description": "A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the SCN4B gene on chromosome 11q23.3."
    },
    "synonyms": [
        {
            "id": "DOID:0110651",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110651",
            "name": "LQT10",
            "description": ""
        },
        {
            "id": "MONDO:0012737",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012737",
            "name": "long QT syndrome 10",
            "description": "Any long QT syndrome in which the cause of the disease is a mutation in the SCN4B gene."
        },
        {
            "id": "MONDO:0012737",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012737",
            "name": "LQT10",
            "description": ""
        },
        {
            "id": "MONDO:0012737",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012737",
            "name": "SCN4B long QT syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012737",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012737",
            "name": "long QT syndrome 10",
            "description": ""
        },
        {
            "id": "MONDO:0012737",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012737",
            "name": "long QT syndrome caused by mutation in SCN4B",
            "description": ""
        },
        {
            "id": "MONDO:0012737",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012737",
            "name": "long QT syndrome type 10",
            "description": ""
        },
        {
            "id": "MIM:611819",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/611819",
            "name": "Atrial fibrillation, familial, 17",
            "description": "Atrial fibrillation, familial, 17"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110651"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110651",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110651",
            "categories": []
        },
        {
            "id": "MONDO:0012737",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012737",
            "categories": []
        },
        {
            "id": "MIM:611819",
            "database": "MIM",
            "url": "https://www.omim.org/entry/611819",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q7M729-1",
            "uniprot_ac": "Q7M729",
            "uniprot_id": "SCN4B_MOUSE",
            "refseq_ac": "NP_001013408",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sodium channel regulatory subunit beta-4",
                    "type": "recommended"
                },
                {
                    "name": "sodium channel accessory subunit",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel regulatory subunit beta-4 precursor",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel regulatory subunit beta-4",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel subunit beta-4",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel, type IV, beta polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "voltage gated sodium channel beta 4 subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Scn4b",
                    "type": "recommended"
                },
                {
                    "name": "Gm1471",
                    "type": "synonym"
                },
                {
                    "name": "Scn4b",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7M729-1",
            "evidence": [
                {
                    "id": "0110651",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110651"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8IWT1-1",
            "uniprot_ac": "Q8IWT1",
            "uniprot_id": "SCN4B_HUMAN",
            "refseq_ac": "NP_001135820",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sodium channel regulatory subunit beta-4",
                    "type": "recommended"
                },
                {
                    "name": "sodium channel regulatory subunit beta-4 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel regulatory subunit beta-4",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel subunit beta-4",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel, voltage-gated, type IV, beta subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SCN4B",
                    "type": "recommended"
                },
                {
                    "name": "ATFB17",
                    "type": "synonym"
                },
                {
                    "name": "LQT10",
                    "type": "synonym"
                },
                {
                    "name": "Navbeta4",
                    "type": "synonym"
                },
                {
                    "name": "SCN4B",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8IWT1-1",
            "evidence": [
                {
                    "id": "611819",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/611819"
                },
                {
                    "id": "0110651",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110651"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7M730-1",
            "uniprot_ac": "Q7M730",
            "uniprot_id": "SCN4B_RAT",
            "refseq_ac": "NP_001008880",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sodium channel regulatory subunit beta-4",
                    "type": "recommended"
                },
                {
                    "name": "sodium channel accessory subunit",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel beta 4 subunit",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel regulatory subunit beta-4 precursor",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel regulatory subunit beta-4",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel subunit beta-4",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel, type 4, beta subunit",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel, type IV, beta",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel, voltage-gated, type IV, beta subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Scn4b",
                    "type": "recommended"
                },
                {
                    "name": "Scn4b",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7M730-1",
            "evidence": [
                {
                    "id": "0110651",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110651"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110651"
}