{
    "disease_id": "DOID:0110655",
    "recommended_name": {
        "id": "DOID:0110655",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110655",
        "name": "long QT syndrome 14",
        "description": "A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the CALM1 gene on chromosome 14q32.11."
    },
    "synonyms": [
        {
            "id": "DOID:0110655",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110655",
            "name": "LQT14",
            "description": ""
        },
        {
            "id": "MONDO:0014548",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014548",
            "name": "long QT syndrome 14",
            "description": "Any long QT syndrome in which the cause of the disease is a mutation in the CALM1 gene."
        },
        {
            "id": "MONDO:0014548",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014548",
            "name": "CALM1 long QT syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014548",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014548",
            "name": "LQT14",
            "description": ""
        },
        {
            "id": "MONDO:0014548",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014548",
            "name": "long QT syndrome 14",
            "description": ""
        },
        {
            "id": "MONDO:0014548",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014548",
            "name": "long QT syndrome caused by mutation in CALM1",
            "description": ""
        },
        {
            "id": "MONDO:0014548",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014548",
            "name": "long QT syndrome type 14",
            "description": ""
        },
        {
            "id": "MIM:616247",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616247",
            "name": "Long QT syndrome 14",
            "description": "Long QT syndrome 14"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110655"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110655",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110655",
            "categories": []
        },
        {
            "id": "MONDO:0014548",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014548",
            "categories": []
        },
        {
            "id": "MIM:616247",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616247",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P0DP26-1",
            "uniprot_ac": "P0DP26",
            "uniprot_id": "CALM1_MOUSE",
            "refseq_ac": "NP_001300863",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Calmodulin-1",
                    "type": "recommended"
                },
                {
                    "name": "calmodulin-1 isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Calm1",
                    "type": "recommended"
                },
                {
                    "name": "Calm2",
                    "type": "recommended"
                },
                {
                    "name": "Calm3",
                    "type": "recommended"
                },
                {
                    "name": "CaM",
                    "type": "synonym"
                },
                {
                    "name": "Calm1",
                    "type": "synonym"
                },
                {
                    "name": "Calm",
                    "type": "synonym"
                },
                {
                    "name": "Cam1",
                    "type": "synonym"
                },
                {
                    "name": "Cam",
                    "type": "synonym"
                }
            ],
            "record_id": "P0DP26-1",
            "evidence": [
                {
                    "id": "0110655",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110655"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P0DP23-1",
            "uniprot_ac": "P0DP23",
            "uniprot_id": "CALM1_HUMAN",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Calmodulin-1",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "CALM1",
                    "type": "recommended"
                },
                {
                    "name": "CALM2",
                    "type": "recommended"
                },
                {
                    "name": "CALM3",
                    "type": "recommended"
                },
                {
                    "name": "CALM2",
                    "type": "synonym"
                },
                {
                    "name": "CALM3",
                    "type": "synonym"
                },
                {
                    "name": "CALM",
                    "type": "synonym"
                },
                {
                    "name": "CAM1",
                    "type": "synonym"
                },
                {
                    "name": "CAM",
                    "type": "synonym"
                }
            ],
            "record_id": "P0DP23-1",
            "evidence": [
                {
                    "id": "616247",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616247"
                },
                {
                    "id": "0110655",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110655"
                }
            ]
        },
        {
            "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": "0110655",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110655"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P0DP29-1",
            "uniprot_ac": "P0DP29",
            "uniprot_id": "CALM1_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Calmodulin-1",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Calm1",
                    "type": "recommended"
                },
                {
                    "name": "Calm2",
                    "type": "recommended"
                },
                {
                    "name": "CaMI",
                    "type": "synonym"
                },
                {
                    "name": "Calm1",
                    "type": "synonym"
                },
                {
                    "name": "Calm2-ps2",
                    "type": "synonym"
                },
                {
                    "name": "Calm3",
                    "type": "synonym"
                },
                {
                    "name": "Calm",
                    "type": "synonym"
                },
                {
                    "name": "Cam1",
                    "type": "synonym"
                },
                {
                    "name": "Cam",
                    "type": "synonym"
                }
            ],
            "record_id": "P0DP29-1",
            "evidence": [
                {
                    "id": "0110655",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110655"
                }
            ]
        },
        {
            "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": "0110655",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110655"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O00230-1",
            "uniprot_ac": "O00230",
            "uniprot_id": "CORT_HUMAN",
            "refseq_ac": "NP_001293",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cortistatin",
                    "type": "recommended"
                },
                {
                    "name": "cortistatin preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "cortistatin-14",
                    "type": "synonym"
                },
                {
                    "name": "cortistatin-17",
                    "type": "synonym"
                },
                {
                    "name": "cortistatin-29",
                    "type": "synonym"
                },
                {
                    "name": "prepro-cortistatin",
                    "type": "synonym"
                },
                {
                    "name": "preprocortistatin",
                    "type": "synonym"
                },
                {
                    "name": "somatostatin 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CORT",
                    "type": "recommended"
                },
                {
                    "name": "CORT",
                    "type": "synonym"
                },
                {
                    "name": "CST-14",
                    "type": "synonym"
                },
                {
                    "name": "CST-17",
                    "type": "synonym"
                },
                {
                    "name": "CST-29",
                    "type": "synonym"
                },
                {
                    "name": "PRO350",
                    "type": "synonym"
                },
                {
                    "name": "SST2",
                    "type": "synonym"
                }
            ],
            "record_id": "O00230-1",
            "evidence": [
                {
                    "id": "0110655",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110655"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110655"
}