{
    "disease_id": "DOID:0110328",
    "recommended_name": {
        "id": "DOID:0110328",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110328",
        "name": "hypertrophic cardiomyopathy 25",
        "description": "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the TCAP gene on chromosome 17q12."
    },
    "synonyms": [
        {
            "id": "DOID:0110328",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110328",
            "name": "CMH25",
            "description": ""
        },
        {
            "id": "DOID:0110328",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110328",
            "name": "cardiomyopathy familial hypertrophic 25",
            "description": ""
        },
        {
            "id": "MONDO:0011843",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011843",
            "name": "hypertrophic cardiomyopathy 25",
            "description": "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TCAP gene."
        },
        {
            "id": "MONDO:0011843",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011843",
            "name": "CMH25",
            "description": ""
        },
        {
            "id": "MONDO:0011843",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011843",
            "name": "TCAP hypertrophic cardiomyopathy",
            "description": ""
        },
        {
            "id": "MONDO:0011843",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011843",
            "name": "Tcap hypertrophic cardiomyopathy",
            "description": ""
        },
        {
            "id": "MONDO:0011843",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011843",
            "name": "cardiomyopathy, familial hypertrophic, type 25",
            "description": ""
        },
        {
            "id": "MONDO:0011843",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011843",
            "name": "cardiomyopathy, hypertrophic, 25",
            "description": ""
        },
        {
            "id": "MONDO:0011843",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011843",
            "name": "hypertrophic cardiomyopathy caused by mutation in TCAP",
            "description": ""
        },
        {
            "id": "MONDO:0011843",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011843",
            "name": "hypertrophic cardiomyopathy type 25",
            "description": ""
        },
        {
            "id": "MONDO:0011843",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011843",
            "name": "cardiomyopathy, familial hypertrophic, 25",
            "description": ""
        },
        {
            "id": "MIM:607487",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/607487",
            "name": "Cardiomyopathy, familial hypertrophic, 25",
            "description": "Cardiomyopathy, familial hypertrophic, 25"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110328"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110328",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110328",
            "categories": []
        },
        {
            "id": "MONDO:0011843",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011843",
            "categories": []
        },
        {
            "id": "MIM:607487",
            "database": "MIM",
            "url": "https://www.omim.org/entry/607487",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9P8J3-1",
            "uniprot_ac": "A0A8M9P8J3",
            "uniprot_id": "A0A8M9P8J3_DANRE",
            "refseq_ac": "XP_068070335",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Telethonin isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "telethonin isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "zmp:0000000930",
                    "type": "recommended"
                },
                {
                    "name": "zmp:0000000930",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9P8J3-1",
            "evidence": [
                {
                    "id": "0110328",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110328"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "E9QCX4-1",
            "uniprot_ac": "E9QCX4",
            "uniprot_id": "E9QCX4_DANRE",
            "refseq_ac": "NP_001292500",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Telethonin",
                    "type": "synonym"
                },
                {
                    "name": "telethonin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tcap",
                    "type": "recommended"
                },
                {
                    "name": "tcap",
                    "type": "synonym"
                }
            ],
            "record_id": "E9QCX4-1",
            "evidence": [
                {
                    "id": "0110328",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110328"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O70548-1",
            "uniprot_ac": "O70548",
            "uniprot_id": "TELT_MOUSE",
            "refseq_ac": "NP_035670",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Telethonin",
                    "type": "recommended"
                },
                {
                    "name": "Titin cap protein",
                    "type": "synonym"
                },
                {
                    "name": "telethonin",
                    "type": "synonym"
                },
                {
                    "name": "titin cap protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tcap",
                    "type": "recommended"
                },
                {
                    "name": "Tcap",
                    "type": "synonym"
                }
            ],
            "record_id": "O70548-1",
            "evidence": [
                {
                    "id": "0110328",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110328"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O15273-1",
            "uniprot_ac": "O15273",
            "uniprot_id": "TELT_HUMAN",
            "refseq_ac": "NP_003664",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Telethonin",
                    "type": "recommended"
                },
                {
                    "name": "19 kDa sarcomeric protein",
                    "type": "synonym"
                },
                {
                    "name": "Titin cap protein",
                    "type": "synonym"
                },
                {
                    "name": "limb girdle muscular dystrophy 2G (autosomal recessive)",
                    "type": "synonym"
                },
                {
                    "name": "telethonin",
                    "type": "synonym"
                },
                {
                    "name": "teneurin C-terminal associated peptide",
                    "type": "synonym"
                },
                {
                    "name": "titin cap protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TCAP",
                    "type": "recommended"
                },
                {
                    "name": "CMD1N",
                    "type": "synonym"
                },
                {
                    "name": "CMH25",
                    "type": "synonym"
                },
                {
                    "name": "LGMD2G",
                    "type": "synonym"
                },
                {
                    "name": "LGMDR7",
                    "type": "synonym"
                },
                {
                    "name": "T-cap",
                    "type": "synonym"
                },
                {
                    "name": "TCAP",
                    "type": "synonym"
                },
                {
                    "name": "TELE",
                    "type": "synonym"
                },
                {
                    "name": "telethonin",
                    "type": "synonym"
                }
            ],
            "record_id": "O15273-1",
            "evidence": [
                {
                    "id": "607487",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/607487"
                },
                {
                    "id": "0110328",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110328"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LAZ2-1",
            "uniprot_ac": "A0ABK0LAZ2",
            "uniprot_id": "A0ABK0LAZ2_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": "Telethonin",
                    "type": "recommended"
                },
                {
                    "name": "Titin cap protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tcap",
                    "type": "recommended"
                }
            ],
            "record_id": "A0ABK0LAZ2-1",
            "evidence": [
                {
                    "id": "0110328",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110328"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110328"
}