{
    "disease_id": "DOID:0060173",
    "recommended_name": {
        "id": "DOID:0060173",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060173",
        "name": "Timothy syndrome",
        "description": "A syndrome characterized by cardiac, hand/foot, facial, and neurodevelopmental features that has_material_basis_in heterozygous mutation in the CACNA1C gene on chromosome 12p13.33. The two forms are type 1 (classic) and type 2, a rare form that has_material_basis_in mutations in a transcript variant of the CACNA1C gene."
    },
    "synonyms": [
        {
            "id": "MONDO:0010979",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010979",
            "name": "Timothy syndrome",
            "description": "Timothy syndrome is a multi-system disorder characterized by cardiac, hand, facial and neurodevelopmental features that include QT prolongation, webbed fingers and toes, flattened nasal bridge, low-set ears, small upper jaw, thin upper lip, and characteristic features of autism or autistic spectrum disorders."
        },
        {
            "id": "MONDO:0010979",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010979",
            "name": "TIMOTHY syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010979",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010979",
            "name": "TS",
            "description": ""
        },
        {
            "id": "MONDO:0010979",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010979",
            "name": "Timothy syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010979",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010979",
            "name": "long QT syndrome-syndactyly syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010979",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010979",
            "name": "LQT8",
            "description": ""
        },
        {
            "id": "MIM:601005",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/601005",
            "name": "Timothy syndrome",
            "description": "Timothy syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060173"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060173",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060173",
            "categories": []
        },
        {
            "id": "MONDO:0010979",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010979",
            "categories": []
        },
        {
            "id": "MIM:601005",
            "database": "MIM",
            "url": "https://www.omim.org/entry/601005",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AB32TNI5-1",
            "uniprot_ac": "A0AB32TNI5",
            "uniprot_id": "A0AB32TNI5_DANRE",
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                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                {
                    "name": "Voltage-dependent L-type calcium channel subunit alpha",
                    "type": "recommended"
                },
                {
                    "name": "voltage-dependent L-type calcium channel subunit alpha-1C isoform X1",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "cacna1c",
                    "type": "recommended"
                },
                {
                    "name": "C-LTCC",
                    "type": "synonym"
                },
                {
                    "name": "cacna1c",
                    "type": "synonym"
                },
                {
                    "name": "isl",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB32TNI5-1",
            "evidence": [
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            "uniprot_id": "A0A8M2BFL7_DANRE",
            "refseq_ac": "XP_005168332",
            "glycoprotein": "yes",
            "species": [
                {
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                }
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                {
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                }
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                }
            ],
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                    "name": "cacna1fb",
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                },
                {
                    "name": "ZfCav1.4",
                    "type": "synonym"
                },
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                    "id": "0060173",
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                    "name": "Danio rerio",
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                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                {
                    "name": "Voltage-dependent L-type calcium channel subunit alpha",
                    "type": "recommended"
                },
                {
                    "name": "calcium channel, voltage-dependent, L type, alpha 1D subunit, a isoform X2",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "cacna1da",
                    "type": "recommended"
                },
                {
                    "name": "cacna1da",
                    "type": "synonym"
                },
                {
                    "name": "cacna1d",
                    "type": "synonym"
                },
                {
                    "name": "cav1.3a",
                    "type": "synonym"
                },
                {
                    "name": "isl",
                    "type": "synonym"
                },
                {
                    "name": "si:dz136d19.3",
                    "type": "synonym"
                },
                {
                    "name": "si:dz223c6.1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9PUS4-1",
            "evidence": [
                {
                    "id": "0060173",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060173"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q01815-1",
            "uniprot_ac": "Q01815",
            "uniprot_id": "CAC1C_MOUSE",
            "refseq_ac": "NP_001153005",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Voltage-dependent L-type calcium channel subunit alpha-1C",
                    "type": "recommended"
                },
                {
                    "name": "Calcium channel, L type, alpha-1 polypeptide, isoform 1, cardiac muscle",
                    "type": "synonym"
                },
                {
                    "name": "MBC",
                    "type": "synonym"
                },
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                    "name": "MELC-CC",
                    "type": "synonym"
                },
                {
                    "name": "Mouse brain class C",
                    "type": "synonym"
                },
                {
                    "name": "Voltage-gated calcium channel subunit alpha Cav1.2",
                    "type": "synonym"
                },
                {
                    "name": "brain class C",
                    "type": "synonym"
                },
                {
                    "name": "calcium channel voltage-dependent alpha1c subunit",
                    "type": "synonym"
                },
                {
                    "name": "neuronal voltage-gated calcium channel alpha 1C subunit",
                    "type": "synonym"
                },
                {
                    "name": "skeletal muscle-specific calcium channel",
                    "type": "synonym"
                },
                {
                    "name": "voltage-dependent L-type calcium channel subunit alpha-1C isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "voltage-dependent L-type calcium channel subunit alpha-1C",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated calcium channel subunit alpha Cav1.2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cacna1c",
                    "type": "recommended"
                },
                {
                    "name": "Cach2",
                    "type": "synonym"
                },
                {
                    "name": "Cacn2",
                    "type": "synonym"
                },
                {
                    "name": "Cacna1c",
                    "type": "synonym"
                },
                {
                    "name": "Cacnl1a1",
                    "type": "synonym"
                },
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                    "name": "Cav1.2",
                    "type": "synonym"
                },
                {
                    "name": "Cchl1a1",
                    "type": "synonym"
                },
                {
                    "name": "D930026N18Rik",
                    "type": "synonym"
                },
                {
                    "name": "MBC",
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                },
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                    "name": "MELC-CC",
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                }
            ],
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                {
                    "id": "0060173",
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                }
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            "uniprot_canonical_ac": "Q02789-1",
            "uniprot_ac": "Q02789",
            "uniprot_id": "CAC1S_MOUSE",
            "refseq_ac": "NP_055008",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Voltage-dependent L-type calcium channel subunit alpha-1S",
                    "type": "recommended"
                },
                {
                    "name": "Calcium channel, L type, alpha-1 polypeptide, isoform 3, skeletal muscle",
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                },
                {
                    "name": "DHPR",
                    "type": "synonym"
                },
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                    "name": "Dihydropyridine receptor",
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                },
                {
                    "name": "Voltage-gated calcium channel subunit alpha Cav1.1",
                    "type": "synonym"
                },
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                    "name": "muscle dysgenesis",
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                {
                    "name": "voltage-dependent L-type calcium channel subunit alpha-1S isoform 1",
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                },
                {
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                    "name": "voltage-gated calcium channel subunit alpha Cav1.1",
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                    "name": "Cacna1s",
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                },
                {
                    "name": "Cacna1s",
                    "type": "synonym"
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                    "name": "sj",
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                    "id": "0060173",
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                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                {
                    "name": "Voltage-dependent L-type calcium channel subunit alpha-1F",
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                },
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                }
            ],
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                    "id": "0060173",
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                    "type": "synonym"
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                    "name": "calcium channel, L type, alpha-1 polypeptide",
                    "type": "synonym"
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                {
                    "name": "voltage-dependent L-type calcium channel subunit alpha-1D isoform 2",
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                    "name": "voltage-dependent L-type calcium channel subunit alpha-1D",
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                    "name": "voltage-gated calcium channel subunit alpha Cav1.3",
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                    "name": "Cacna1d",
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                    "name": "8430418G19Rik",
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                {
                    "id": "0060173",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0060173"
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        {
            "uniprot_canonical_ac": "Q13936-1",
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                {
                    "name": "Homo sapiens",
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                }
            ],
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                {
                    "name": "Voltage-dependent L-type calcium channel subunit alpha-1C",
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                    "name": "calcium channel, voltage-dependent, L type, alpha 1C subunit",
                    "type": "synonym"
                },
                {
                    "name": "voltage-dependent L-type Ca2+ channel alpha 1 subunit",
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                    "name": "voltage-dependent L-type calcium channel subunit alpha-1C isoform 18",
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                    "id": "0060173",
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                }
            ]
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            "glycoprotein": "yes",
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                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
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                    "name": "Calcium-channel protein CCH1",
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                    "name": "calcium channel protein CCH1",
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                }
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            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
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}