{
    "disease_id": "DOID:0110308",
    "recommended_name": {
        "id": "DOID:0110308",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110308",
        "name": "hypertrophic cardiomyopathy 2",
        "description": "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the cardiac troponin-T2 gene (TNNT2)."
    },
    "synonyms": [
        {
            "id": "DOID:0110308",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110308",
            "name": "CMH2",
            "description": ""
        },
        {
            "id": "DOID:0110308",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110308",
            "name": "cardiomyopathy familial hypertrophic 2",
            "description": ""
        },
        {
            "id": "MONDO:0007266",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007266",
            "name": "hypertrophic cardiomyopathy 2",
            "description": "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TNNT2 gene."
        },
        {
            "id": "MONDO:0007266",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007266",
            "name": "CMH2",
            "description": ""
        },
        {
            "id": "MONDO:0007266",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007266",
            "name": "TNNT2 hypertrophic cardiomyopathy",
            "description": ""
        },
        {
            "id": "MONDO:0007266",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007266",
            "name": "cardiomyopathy, familial hypertrophic, type 2",
            "description": ""
        },
        {
            "id": "MONDO:0007266",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007266",
            "name": "cardiomyopathy, hypertrophic, 2",
            "description": ""
        },
        {
            "id": "MONDO:0007266",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007266",
            "name": "familial hypertrophic cardiomyopathy type 2",
            "description": ""
        },
        {
            "id": "MONDO:0007266",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007266",
            "name": "hypertrophic cardiomyopathy 2",
            "description": ""
        },
        {
            "id": "MONDO:0007266",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007266",
            "name": "hypertrophic cardiomyopathy caused by mutation in TNNT2",
            "description": ""
        },
        {
            "id": "MONDO:0007266",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007266",
            "name": "hypertrophic cardiomyopathy type 2",
            "description": ""
        },
        {
            "id": "MONDO:0007266",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007266",
            "name": "cardiomyopathy, familial hypertrophic, 2",
            "description": ""
        },
        {
            "id": "MIM:115195",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/115195",
            "name": "Cardiomyopathy, familial hypertrophic, 2",
            "description": "Cardiomyopathy, familial hypertrophic, 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110308"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110308",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110308",
            "categories": []
        },
        {
            "id": "MONDO:0007266",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007266",
            "categories": []
        },
        {
            "id": "MIM:115195",
            "database": "MIM",
            "url": "https://www.omim.org/entry/115195",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AB32TTC6-1",
            "uniprot_ac": "A0AB32TTC6",
            "uniprot_id": "A0AB32TTC6_DANRE",
            "refseq_ac": "XP_068078170",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Troponin T, cardiac muscle isoforms",
                    "type": "synonym"
                },
                {
                    "name": "troponin T, cardiac muscle isoforms",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tnnt2b",
                    "type": "recommended"
                },
                {
                    "name": "tnnt2b",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB32TTC6-1",
            "evidence": [
                {
                    "id": "0110308",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110308"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0AB32TLE9-1",
            "uniprot_ac": "A0AB32TLE9",
            "uniprot_id": "A0AB32TLE9_DANRE",
            "refseq_ac": "XP_068075741",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Troponin T2e, cardiac isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "troponin T2e, cardiac isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tnnt2e",
                    "type": "recommended"
                },
                {
                    "name": "si:ch211-136g2.1",
                    "type": "synonym"
                },
                {
                    "name": "tnnt2e",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB32TLE9-1",
            "evidence": [
                {
                    "id": "0110308",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110308"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P50752-1",
            "uniprot_ac": "P50752",
            "uniprot_id": "TNNT2_MOUSE",
            "refseq_ac": "NP_001123648",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Troponin T, cardiac muscle",
                    "type": "recommended"
                },
                {
                    "name": "Cardiac muscle troponin T",
                    "type": "synonym"
                },
                {
                    "name": "TnTc",
                    "type": "synonym"
                },
                {
                    "name": "cTnT",
                    "type": "synonym"
                },
                {
                    "name": "cardiac TnT",
                    "type": "synonym"
                },
                {
                    "name": "cardiac muscle troponin T",
                    "type": "synonym"
                },
                {
                    "name": "tnTc",
                    "type": "synonym"
                },
                {
                    "name": "troponin T, cardiac muscle isoform b",
                    "type": "synonym"
                },
                {
                    "name": "troponin T, cardiac muscle",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tnnt2",
                    "type": "recommended"
                },
                {
                    "name": "Tnnt2",
                    "type": "synonym"
                },
                {
                    "name": "Tnt",
                    "type": "synonym"
                },
                {
                    "name": "cTnT",
                    "type": "synonym"
                }
            ],
            "record_id": "P50752-1",
            "evidence": [
                {
                    "id": "0110308",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110308"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P45379-1",
            "uniprot_ac": "P45379",
            "uniprot_id": "TNNT2_HUMAN",
            "refseq_ac": "NP_001001432",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Troponin T, cardiac muscle",
                    "type": "recommended"
                },
                {
                    "name": "Cardiac muscle troponin T",
                    "type": "synonym"
                },
                {
                    "name": "TnTc",
                    "type": "synonym"
                },
                {
                    "name": "cTnT",
                    "type": "synonym"
                },
                {
                    "name": "cardiomyopathy, dilated 1D (autosomal dominant)",
                    "type": "synonym"
                },
                {
                    "name": "cardiomyopathy, hypertrophic 2",
                    "type": "synonym"
                },
                {
                    "name": "troponin T type 2 (cardiac)",
                    "type": "synonym"
                },
                {
                    "name": "troponin T, cardiac muscle isoform 4",
                    "type": "synonym"
                },
                {
                    "name": "troponin T, cardiac muscle",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TNNT2",
                    "type": "recommended"
                },
                {
                    "name": "CMD1D",
                    "type": "synonym"
                },
                {
                    "name": "CMH2",
                    "type": "synonym"
                },
                {
                    "name": "CMPD2",
                    "type": "synonym"
                },
                {
                    "name": "LVNC6",
                    "type": "synonym"
                },
                {
                    "name": "RCM3",
                    "type": "synonym"
                },
                {
                    "name": "TNNT2",
                    "type": "synonym"
                },
                {
                    "name": "TnTC",
                    "type": "synonym"
                },
                {
                    "name": "cTnT",
                    "type": "synonym"
                }
            ],
            "record_id": "P45379-1",
            "evidence": [
                {
                    "id": "115195",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/115195"
                },
                {
                    "id": "0110308",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110308"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P50753-1",
            "uniprot_ac": "P50753",
            "uniprot_id": "TNNT2_RAT",
            "refseq_ac": "NP_036808",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Troponin T, cardiac muscle",
                    "type": "recommended"
                },
                {
                    "name": "Cardiac muscle troponin T",
                    "type": "synonym"
                },
                {
                    "name": "TnTc",
                    "type": "synonym"
                },
                {
                    "name": "Troponin T cardiac",
                    "type": "synonym"
                },
                {
                    "name": "cTnT",
                    "type": "synonym"
                },
                {
                    "name": "cardiac muscle troponin T",
                    "type": "synonym"
                },
                {
                    "name": "cardiac troponin T2",
                    "type": "synonym"
                },
                {
                    "name": "tnTc",
                    "type": "synonym"
                },
                {
                    "name": "troponin T type 2 (cardiac)",
                    "type": "synonym"
                },
                {
                    "name": "troponin T, cardiac muscle isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "troponin T, cardiac muscle",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tnnt2",
                    "type": "recommended"
                },
                {
                    "name": "CTTG",
                    "type": "synonym"
                },
                {
                    "name": "Ctt",
                    "type": "synonym"
                },
                {
                    "name": "RATCTTG",
                    "type": "synonym"
                },
                {
                    "name": "Tnnt2",
                    "type": "synonym"
                },
                {
                    "name": "Tnnt3",
                    "type": "synonym"
                }
            ],
            "record_id": "P50753-1",
            "evidence": [
                {
                    "id": "0110308",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110308"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P19351-1",
            "uniprot_ac": "P19351",
            "uniprot_id": "TNNT_DROME",
            "refseq_ac": "NP_001014737",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Troponin T, skeletal muscle",
                    "type": "recommended"
                },
                {
                    "name": "CG7107-PG",
                    "type": "synonym"
                },
                {
                    "name": "Protein intended thorax",
                    "type": "synonym"
                },
                {
                    "name": "Protein upheld",
                    "type": "synonym"
                },
                {
                    "name": "indented thorax",
                    "type": "synonym"
                },
                {
                    "name": "troponin T",
                    "type": "synonym"
                },
                {
                    "name": "troponin-T",
                    "type": "synonym"
                },
                {
                    "name": "troponinT",
                    "type": "synonym"
                },
                {
                    "name": "up-PG",
                    "type": "synonym"
                },
                {
                    "name": "upheld, isoform G",
                    "type": "synonym"
                },
                {
                    "name": "upheld",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "up",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:LD08591",
                    "type": "synonym"
                },
                {
                    "name": "CG7107",
                    "type": "synonym"
                },
                {
                    "name": "DmTpnT",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7107",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG7107",
                    "type": "synonym"
                },
                {
                    "name": "TNT",
                    "type": "synonym"
                },
                {
                    "name": "Tn-T",
                    "type": "synonym"
                },
                {
                    "name": "TnT",
                    "type": "synonym"
                },
                {
                    "name": "TpnT",
                    "type": "synonym"
                },
                {
                    "name": "Up",
                    "type": "synonym"
                },
                {
                    "name": "cTNT",
                    "type": "synonym"
                },
                {
                    "name": "dro TnT",
                    "type": "synonym"
                },
                {
                    "name": "int",
                    "type": "synonym"
                },
                {
                    "name": "tnT",
                    "type": "synonym"
                },
                {
                    "name": "upheld2",
                    "type": "synonym"
                },
                {
                    "name": "up",
                    "type": "synonym"
                },
                {
                    "name": "wupB",
                    "type": "synonym"
                }
            ],
            "record_id": "P19351-1",
            "evidence": [
                {
                    "id": "0110308",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110308"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110308"
}