{
    "disease_id": "DOID:0070533",
    "recommended_name": {
        "id": "DOID:0070533",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070533",
        "name": "long QT syndrome 16",
        "description": "A long QT syndrome characterized by perinatal onset of markedly prolonged corrected QT (QTc) interval, 2:1 atrioventricular (AV) block, and bradycardia or ventricular tachycardia (torsades de pointes) that has_material_basis_in heterozygous mutation in the CALM3 gene on chromosome 19q13.32. Syncope, cardiac arrest, and sudden death are common."
    },
    "synonyms": [
        {
            "id": "DOID:0070533",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070533",
            "name": "LQT16",
            "description": ""
        },
        {
            "id": "MONDO:0032915",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032915",
            "name": "long QT syndrome 16",
            "description": ""
        },
        {
            "id": "MONDO:0032915",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032915",
            "name": "long QT syndrome 16",
            "description": ""
        },
        {
            "id": "MONDO:0032915",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032915",
            "name": "LQT16",
            "description": ""
        },
        {
            "id": "MIM:618782",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618782",
            "name": "Long QT syndrome 16",
            "description": "Long QT syndrome 16"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070533"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070533",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070533",
            "categories": []
        },
        {
            "id": "MONDO:0032915",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032915",
            "categories": []
        },
        {
            "id": "MIM:618782",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618782",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P0DP28-1",
            "uniprot_ac": "P0DP28",
            "uniprot_id": "CALM3_MOUSE",
            "refseq_ac": "NP_031615",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Calmodulin-3",
                    "type": "recommended"
                },
                {
                    "name": "caM",
                    "type": "synonym"
                },
                {
                    "name": "calmodulin-2 isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Calm3",
                    "type": "recommended"
                },
                {
                    "name": "1500001E21Rik",
                    "type": "synonym"
                },
                {
                    "name": "Calm2",
                    "type": "synonym"
                },
                {
                    "name": "Cam2",
                    "type": "synonym"
                },
                {
                    "name": "Cam3",
                    "type": "synonym"
                },
                {
                    "name": "CamC",
                    "type": "synonym"
                },
                {
                    "name": "Camc",
                    "type": "synonym"
                }
            ],
            "record_id": "P0DP28-1",
            "evidence": [
                {
                    "id": "0070533",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070533"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P0DP25-1",
            "uniprot_ac": "P0DP25",
            "uniprot_id": "CALM3_HUMAN",
            "refseq_ac": "NP_001316851",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Calmodulin-3",
                    "type": "recommended"
                },
                {
                    "name": "Calmodulin-1",
                    "type": "synonym"
                },
                {
                    "name": "Calmodulin-2",
                    "type": "synonym"
                },
                {
                    "name": "calmodulin-3 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory protein Li 72",
                    "type": "synonym"
                },
                {
                    "name": "phosphorylase kinase subunit delta 3",
                    "type": "synonym"
                },
                {
                    "name": "phosphorylase kinase subunit delta",
                    "type": "synonym"
                },
                {
                    "name": "prepro-calmodulin 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CALM3",
                    "type": "recommended"
                },
                {
                    "name": "CALM3",
                    "type": "synonym"
                },
                {
                    "name": "CALML2",
                    "type": "synonym"
                },
                {
                    "name": "CALM",
                    "type": "synonym"
                },
                {
                    "name": "CAM1",
                    "type": "synonym"
                },
                {
                    "name": "CAM2",
                    "type": "synonym"
                },
                {
                    "name": "CAM3",
                    "type": "synonym"
                },
                {
                    "name": "CAMB",
                    "type": "synonym"
                },
                {
                    "name": "CAMC",
                    "type": "synonym"
                },
                {
                    "name": "CAMIII",
                    "type": "synonym"
                },
                {
                    "name": "CPVT6",
                    "type": "synonym"
                },
                {
                    "name": "CaMIII",
                    "type": "synonym"
                },
                {
                    "name": "CaM",
                    "type": "synonym"
                },
                {
                    "name": "HEL-S-72",
                    "type": "synonym"
                },
                {
                    "name": "LQT16",
                    "type": "synonym"
                },
                {
                    "name": "PHKD3",
                    "type": "synonym"
                },
                {
                    "name": "PHKD",
                    "type": "synonym"
                }
            ],
            "record_id": "P0DP25-1",
            "evidence": [
                {
                    "id": "618782",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618782"
                },
                {
                    "id": "0070533",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070533"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P06787-1",
            "uniprot_ac": "P06787",
            "uniprot_id": "CALM_YEAST",
            "refseq_ac": "NP_009667",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Calmodulin",
                    "type": "recommended"
                },
                {
                    "name": "CaM",
                    "type": "synonym"
                },
                {
                    "name": "calmodulin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CMD1",
                    "type": "recommended"
                },
                {
                    "name": "CMD1",
                    "type": "synonym"
                },
                {
                    "name": "YBR0904",
                    "type": "synonym"
                }
            ],
            "record_id": "P06787-1",
            "evidence": [
                {
                    "id": "0070533",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070533"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P0DP31-1",
            "uniprot_ac": "P0DP31",
            "uniprot_id": "CALM3_RAT",
            "refseq_ac": "NP_036650",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Calmodulin-3",
                    "type": "recommended"
                },
                {
                    "name": "Calmodulin III",
                    "type": "synonym"
                },
                {
                    "name": "caM",
                    "type": "synonym"
                },
                {
                    "name": "calmodulin-3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Calm3",
                    "type": "recommended"
                },
                {
                    "name": "CaMIII",
                    "type": "synonym"
                },
                {
                    "name": "Calm3",
                    "type": "synonym"
                },
                {
                    "name": "Cam3",
                    "type": "synonym"
                },
                {
                    "name": "Camc",
                    "type": "synonym"
                },
                {
                    "name": "RNCAMIII",
                    "type": "synonym"
                }
            ],
            "record_id": "P0DP31-1",
            "evidence": [
                {
                    "id": "0070533",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070533"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P62152-1",
            "uniprot_ac": "P62152",
            "uniprot_id": "CALM_DROME",
            "refseq_ac": "NP_001246276",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Calmodulin",
                    "type": "recommended"
                },
                {
                    "name": "CG8472-PC",
                    "type": "synonym"
                },
                {
                    "name": "CaM",
                    "type": "synonym"
                },
                {
                    "name": "Cam-PC",
                    "type": "synonym"
                },
                {
                    "name": "calmodulin, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "calmodulin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cam",
                    "type": "recommended"
                },
                {
                    "name": "3909",
                    "type": "synonym"
                },
                {
                    "name": "CAM",
                    "type": "synonym"
                },
                {
                    "name": "CG8472",
                    "type": "synonym"
                },
                {
                    "name": "CaM",
                    "type": "synonym"
                },
                {
                    "name": "Cal49A",
                    "type": "synonym"
                },
                {
                    "name": "CalA",
                    "type": "synonym"
                },
                {
                    "name": "Cal",
                    "type": "synonym"
                },
                {
                    "name": "Cam1",
                    "type": "synonym"
                },
                {
                    "name": "Cam",
                    "type": "synonym"
                },
                {
                    "name": "D-CaM",
                    "type": "synonym"
                },
                {
                    "name": "DmCaM",
                    "type": "synonym"
                },
                {
                    "name": "DmCalm",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8472",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG8472",
                    "type": "synonym"
                },
                {
                    "name": "anon-EST:Posey59",
                    "type": "synonym"
                },
                {
                    "name": "cam",
                    "type": "synonym"
                },
                {
                    "name": "dCaM",
                    "type": "synonym"
                },
                {
                    "name": "l(2)03909",
                    "type": "synonym"
                },
                {
                    "name": "l(2)3909",
                    "type": "synonym"
                },
                {
                    "name": "lincRNA.S2634",
                    "type": "synonym"
                }
            ],
            "record_id": "P62152-1",
            "evidence": [
                {
                    "id": "0070533",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070533"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q16206-1",
            "uniprot_ac": "Q16206",
            "uniprot_id": "ENOX2_HUMAN",
            "refseq_ac": "NP_001268665",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ecto-NOX disulfide-thiol exchanger 2",
                    "type": "recommended"
                },
                {
                    "name": "APK1 antigen",
                    "type": "synonym"
                },
                {
                    "name": "Cytosolic ovarian carcinoma antigen 1",
                    "type": "synonym"
                },
                {
                    "name": "Tumor-associated hydroquinone oxidase",
                    "type": "synonym"
                },
                {
                    "name": "cytosolic ovarian carcinoma antigen 1",
                    "type": "synonym"
                },
                {
                    "name": "ecto-NADPH oxidase disulfide-thiol exchanger 2",
                    "type": "synonym"
                },
                {
                    "name": "ecto-NOX disulfide-thiol exchanger 2 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "tNOX",
                    "type": "synonym"
                },
                {
                    "name": "tumor-associated NADH oxidase",
                    "type": "synonym"
                },
                {
                    "name": "tumor-associated hydroquinone oxidase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ENOX2",
                    "type": "recommended"
                },
                {
                    "name": "APK1",
                    "type": "synonym"
                },
                {
                    "name": "COVA1",
                    "type": "synonym"
                },
                {
                    "name": "ENOX2",
                    "type": "synonym"
                },
                {
                    "name": "tNOX",
                    "type": "synonym"
                }
            ],
            "record_id": "Q16206-1",
            "evidence": [
                {
                    "id": "0070533",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070533"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070533"
}