{
    "disease_id": "DOID:0110319",
    "recommended_name": {
        "id": "DOID:0110319",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110319",
        "name": "hypertrophic cardiomyopathy 13",
        "description": "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the TNNC1 gene on chromosome 3p21."
    },
    "synonyms": [
        {
            "id": "DOID:0110319",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110319",
            "name": "CMH13",
            "description": ""
        },
        {
            "id": "DOID:0110319",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110319",
            "name": "cardiomyopathy familial hypertrophic 13",
            "description": ""
        },
        {
            "id": "MONDO:0013195",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013195",
            "name": "hypertrophic cardiomyopathy 13",
            "description": "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TNNC1 gene."
        },
        {
            "id": "MONDO:0013195",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013195",
            "name": "CMH13",
            "description": ""
        },
        {
            "id": "MONDO:0013195",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013195",
            "name": "TNNC1 hypertrophic cardiomyopathy",
            "description": ""
        },
        {
            "id": "MONDO:0013195",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013195",
            "name": "cardiomyopathy, familial hypertrophic, type 13",
            "description": ""
        },
        {
            "id": "MONDO:0013195",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013195",
            "name": "cardiomyopathy, hypertrophic, 13",
            "description": ""
        },
        {
            "id": "MONDO:0013195",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013195",
            "name": "hypertrophic cardiomyopathy caused by mutation in TNNC1",
            "description": ""
        },
        {
            "id": "MONDO:0013195",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013195",
            "name": "hypertrophic cardiomyopathy type 13",
            "description": ""
        },
        {
            "id": "MONDO:0013195",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013195",
            "name": "cardiomyopathy, familial hypertrophic, 13",
            "description": ""
        },
        {
            "id": "MIM:613243",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613243",
            "name": "Cardiomyopathy, familial hypertrophic, 13",
            "description": "Cardiomyopathy, familial hypertrophic, 13"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110319"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110319",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110319",
            "categories": []
        },
        {
            "id": "MONDO:0013195",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013195",
            "categories": []
        },
        {
            "id": "MIM:613243",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613243",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P19123-1",
            "uniprot_ac": "P19123",
            "uniprot_id": "TNNC1_MOUSE",
            "refseq_ac": "NP_033419",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Troponin C, slow skeletal and cardiac muscles",
                    "type": "recommended"
                },
                {
                    "name": "TN-C",
                    "type": "synonym"
                },
                {
                    "name": "troponin C, slow skeletal and cardiac muscles",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tnnc1",
                    "type": "recommended"
                },
                {
                    "name": "TnC",
                    "type": "synonym"
                },
                {
                    "name": "Tncc",
                    "type": "synonym"
                },
                {
                    "name": "Tnnc1",
                    "type": "synonym"
                },
                {
                    "name": "cTnC",
                    "type": "synonym"
                },
                {
                    "name": "cTnI",
                    "type": "synonym"
                },
                {
                    "name": "tncc",
                    "type": "synonym"
                }
            ],
            "record_id": "P19123-1",
            "evidence": [
                {
                    "id": "0110319",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110319"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P63316-1",
            "uniprot_ac": "P63316",
            "uniprot_id": "TNNC1_HUMAN",
            "refseq_ac": "NP_003271",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Troponin C, slow skeletal and cardiac muscles",
                    "type": "recommended"
                },
                {
                    "name": "TN-C",
                    "type": "synonym"
                },
                {
                    "name": "cardiac troponin C",
                    "type": "synonym"
                },
                {
                    "name": "slow twitch skeletal/cardiac muscle troponin C",
                    "type": "synonym"
                },
                {
                    "name": "troponin C type 1 (slow)",
                    "type": "synonym"
                },
                {
                    "name": "troponin C, slow skeletal and cardiac muscles",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TNNC1",
                    "type": "recommended"
                },
                {
                    "name": "CMD1Z",
                    "type": "synonym"
                },
                {
                    "name": "CMH13",
                    "type": "synonym"
                },
                {
                    "name": "TN-C",
                    "type": "synonym"
                },
                {
                    "name": "TNC",
                    "type": "synonym"
                },
                {
                    "name": "TNNC1",
                    "type": "synonym"
                },
                {
                    "name": "TNNC",
                    "type": "synonym"
                }
            ],
            "record_id": "P63316-1",
            "evidence": [
                {
                    "id": "613243",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613243"
                },
                {
                    "id": "0110319",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110319"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110319"
}