{
    "disease_id": "DOID:0110653",
    "recommended_name": {
        "id": "DOID:0110653",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110653",
        "name": "long QT syndrome 12",
        "description": "A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the SNTA1 gene on chromosome 20q11.21."
    },
    "synonyms": [
        {
            "id": "DOID:0110653",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110653",
            "name": "LQT12",
            "description": ""
        },
        {
            "id": "MONDO:0013062",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013062",
            "name": "long QT syndrome 12",
            "description": "Any long QT syndrome in which the cause of the disease is a mutation in the SNTA1 gene."
        },
        {
            "id": "MONDO:0013062",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013062",
            "name": "LQT12",
            "description": ""
        },
        {
            "id": "MONDO:0013062",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013062",
            "name": "SNTA1 long QT syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013062",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013062",
            "name": "long QT syndrome 12",
            "description": ""
        },
        {
            "id": "MONDO:0013062",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013062",
            "name": "long QT syndrome caused by mutation in SNTA1",
            "description": ""
        },
        {
            "id": "MONDO:0013062",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013062",
            "name": "long QT syndrome type 12",
            "description": ""
        },
        {
            "id": "MIM:612955",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/612955",
            "name": "Long QT syndrome 12",
            "description": "Long QT syndrome 12"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110653"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110653",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110653",
            "categories": []
        },
        {
            "id": "MONDO:0013062",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013062",
            "categories": []
        },
        {
            "id": "MIM:612955",
            "database": "MIM",
            "url": "https://www.omim.org/entry/612955",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q61234-1",
            "uniprot_ac": "Q61234",
            "uniprot_id": "SNTA1_MOUSE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Alpha-1-syntrophin",
                    "type": "recommended"
                },
                {
                    "name": "59 kDa dystrophin-associated protein A1 acidic component 1",
                    "type": "synonym"
                },
                {
                    "name": "Syntrophin-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Snta1",
                    "type": "recommended"
                },
                {
                    "name": "Snt1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q61234-1",
            "evidence": [
                {
                    "id": "0110653",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110653"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q13424-1",
            "uniprot_ac": "Q13424",
            "uniprot_id": "SNTA1_HUMAN",
            "refseq_ac": "NP_003089",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Alpha-1-syntrophin",
                    "type": "recommended"
                },
                {
                    "name": "59 kDa dystrophin-associated protein A1 acidic component 1",
                    "type": "synonym"
                },
                {
                    "name": "Pro-TGF-alpha cytoplasmic domain-interacting protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Syntrophin-1",
                    "type": "synonym"
                },
                {
                    "name": "TACIP1",
                    "type": "synonym"
                },
                {
                    "name": "acidic alpha 1 syntrophin",
                    "type": "synonym"
                },
                {
                    "name": "alpha-1-syntrophin isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "alpha-1-syntrophin",
                    "type": "synonym"
                },
                {
                    "name": "dystrophin-associated protein A1, 59kDa, acidic component",
                    "type": "synonym"
                },
                {
                    "name": "pro-TGF-alpha cytoplasmic domain-interacting protein 1",
                    "type": "synonym"
                },
                {
                    "name": "syntrophin-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SNTA1",
                    "type": "recommended"
                },
                {
                    "name": "LQT12",
                    "type": "synonym"
                },
                {
                    "name": "SNT1",
                    "type": "synonym"
                },
                {
                    "name": "SNTA1",
                    "type": "synonym"
                },
                {
                    "name": "TACIP1",
                    "type": "synonym"
                },
                {
                    "name": "dJ1187J4.5",
                    "type": "synonym"
                }
            ],
            "record_id": "Q13424-1",
            "evidence": [
                {
                    "id": "612955",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/612955"
                },
                {
                    "id": "0110653",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110653"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8J8Y1B9-1",
            "uniprot_ac": "A0A8J8Y1B9",
            "uniprot_id": "A0A8J8Y1B9_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": "Alpha-1-syntrophin",
                    "type": "recommended"
                },
                {
                    "name": "59 kDa dystrophin-associated protein A1 acidic component 1",
                    "type": "synonym"
                },
                {
                    "name": "Syntrophin-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Snta1",
                    "type": "recommended"
                }
            ],
            "record_id": "A0A8J8Y1B9-1",
            "evidence": [
                {
                    "id": "0110653",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110653"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VNY2-1",
            "uniprot_ac": "Q9VNY2",
            "uniprot_id": "Q9VNY2_DROME",
            "refseq_ac": "NP_001262192",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG7152-PD",
                    "type": "synonym"
                },
                {
                    "name": "Syn1-PD",
                    "type": "synonym"
                },
                {
                    "name": "Syntrophin-1",
                    "type": "synonym"
                },
                {
                    "name": "Syntrophin-like 1, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "Syntrophin-like 1, isoform D",
                    "type": "synonym"
                },
                {
                    "name": "syntrophin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Syn1",
                    "type": "recommended"
                },
                {
                    "name": "CG7151",
                    "type": "synonym"
                },
                {
                    "name": "CG7152",
                    "type": "synonym"
                },
                {
                    "name": "DmSYN-1",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7152",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG7152",
                    "type": "synonym"
                },
                {
                    "name": "Syn1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VNY2-1",
            "evidence": [
                {
                    "id": "0110653",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110653"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110653"
}