{
    "disease_id": "DOID:0110310",
    "recommended_name": {
        "id": "DOID:0110310",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110310",
        "name": "hypertrophic cardiomyopathy 4",
        "description": "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the gene encoding cardiac myosin-binding protein C (MYBPC3) on chromosome 11p11."
    },
    "synonyms": [
        {
            "id": "DOID:0110310",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110310",
            "name": "CMH4",
            "description": ""
        },
        {
            "id": "DOID:0110310",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110310",
            "name": "cardiomyopathy, familial hypertrophic, 4",
            "description": ""
        },
        {
            "id": "MONDO:0007268",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007268",
            "name": "hypertrophic cardiomyopathy 4",
            "description": "An autosomal dominant condition caused by mutation(s) in the MYBPC3 gene, encoding MYBPC3 protein. It is characterized by severe neonatal hypertrophic cardiomyopathy."
        },
        {
            "id": "MONDO:0007268",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007268",
            "name": "CMH4",
            "description": ""
        },
        {
            "id": "MONDO:0007268",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007268",
            "name": "MYBPC3 hypertrophic cardiomyopathy",
            "description": ""
        },
        {
            "id": "MONDO:0007268",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007268",
            "name": "cardiomyopathy, familial hypertrophic, 4",
            "description": ""
        },
        {
            "id": "MONDO:0007268",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007268",
            "name": "cardiomyopathy, familial hypertrophic, type 4",
            "description": ""
        },
        {
            "id": "MONDO:0007268",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007268",
            "name": "cardiomyopathy, hypertrophic, 4",
            "description": ""
        },
        {
            "id": "MONDO:0007268",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007268",
            "name": "familial hypertrophic cardiomyopathy type 4",
            "description": ""
        },
        {
            "id": "MONDO:0007268",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007268",
            "name": "hypertrophic cardiomyopathy 4",
            "description": ""
        },
        {
            "id": "MONDO:0007268",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007268",
            "name": "hypertrophic cardiomyopathy caused by mutation in MYBPC3",
            "description": ""
        },
        {
            "id": "MONDO:0007268",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007268",
            "name": "hypertrophic cardiomyopathy type 4",
            "description": ""
        },
        {
            "id": "MIM:115197",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/115197",
            "name": "Cardiomyopathy, familial hypertrophic, 4",
            "description": "Cardiomyopathy, familial hypertrophic, 4"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110310"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110310",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110310",
            "categories": []
        },
        {
            "id": "MONDO:0007268",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007268",
            "categories": []
        },
        {
            "id": "MIM:115197",
            "database": "MIM",
            "url": "https://www.omim.org/entry/115197",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1N978-1",
            "uniprot_ac": "A0A8M1N978",
            "uniprot_id": "A0A8M1N978_DANRE",
            "refseq_ac": "NP_001037814",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Myosin-binding protein C, fast-type",
                    "type": "recommended"
                },
                {
                    "name": "C-protein, skeletal muscle fast isoform",
                    "type": "synonym"
                },
                {
                    "name": "myosin binding protein C, cardiac",
                    "type": "synonym"
                },
                {
                    "name": "myosin-binding protein C, cardiac-type",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mybpc3",
                    "type": "recommended"
                },
                {
                    "name": "hm:zehn0716",
                    "type": "synonym"
                },
                {
                    "name": "im:6900815",
                    "type": "synonym"
                },
                {
                    "name": "mybpc3",
                    "type": "synonym"
                },
                {
                    "name": "zgc:152717",
                    "type": "synonym"
                },
                {
                    "name": "zgc:158442",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1N978-1",
            "evidence": [
                {
                    "id": "0110310",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110310"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O70468-1",
            "uniprot_ac": "O70468",
            "uniprot_id": "MYPC3_MOUSE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Myosin-binding protein C, cardiac-type",
                    "type": "recommended"
                },
                {
                    "name": "C-protein, cardiac muscle isoform",
                    "type": "synonym"
                },
                {
                    "name": "Cardiac MyBP-C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mybpc3",
                    "type": "recommended"
                }
            ],
            "record_id": "O70468-1",
            "evidence": [
                {
                    "id": "0110310",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110310"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q14896-1",
            "uniprot_ac": "Q14896",
            "uniprot_id": "MYPC3_HUMAN",
            "refseq_ac": "NP_000247",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Myosin-binding protein C, cardiac-type",
                    "type": "recommended"
                },
                {
                    "name": "C-protein, cardiac muscle isoform",
                    "type": "synonym"
                },
                {
                    "name": "Cardiac MyBP-C",
                    "type": "synonym"
                },
                {
                    "name": "myosin binding protein C, cardiac",
                    "type": "synonym"
                },
                {
                    "name": "myosin-binding protein C, cardiac-type",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MYBPC3",
                    "type": "recommended"
                },
                {
                    "name": "CMD1MM",
                    "type": "synonym"
                },
                {
                    "name": "CMH4",
                    "type": "synonym"
                },
                {
                    "name": "FHC",
                    "type": "synonym"
                },
                {
                    "name": "LVNC10",
                    "type": "synonym"
                },
                {
                    "name": "MYBP-C",
                    "type": "synonym"
                },
                {
                    "name": "MYBPC3",
                    "type": "synonym"
                },
                {
                    "name": "cMyBP-C",
                    "type": "synonym"
                }
            ],
            "record_id": "Q14896-1",
            "evidence": [
                {
                    "id": "115197",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/115197"
                },
                {
                    "id": "0110310",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110310"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P56741-1",
            "uniprot_ac": "P56741",
            "uniprot_id": "MYPC_RAT",
            "refseq_ac": "NP_001099960",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Myosin-binding protein C, cardiac-type",
                    "type": "recommended"
                },
                {
                    "name": "C-protein, cardiac muscle isoform",
                    "type": "synonym"
                },
                {
                    "name": "Cardiac MyBP-C",
                    "type": "synonym"
                },
                {
                    "name": "cardiac MyBP-C",
                    "type": "synonym"
                },
                {
                    "name": "myosin binding protein C, cardiac",
                    "type": "synonym"
                },
                {
                    "name": "myosin-binding protein C, cardiac-type",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mybpc3",
                    "type": "recommended"
                },
                {
                    "name": "Mybpc3",
                    "type": "synonym"
                }
            ],
            "record_id": "P56741-1",
            "evidence": [
                {
                    "id": "0110310",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110310"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VZT8-1",
            "uniprot_ac": "Q9VZT8",
            "uniprot_id": "Q9VZT8_DROME",
            "refseq_ac": "NP_647779",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG14964-PB",
                    "type": "synonym"
                },
                {
                    "name": "MnM-PB",
                    "type": "synonym"
                },
                {
                    "name": "Myomesin and myosin binding protein",
                    "type": "synonym"
                },
                {
                    "name": "myomesin and myosin binding protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MnM",
                    "type": "recommended"
                },
                {
                    "name": "CG14964",
                    "type": "synonym"
                },
                {
                    "name": "CT34810",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG14964",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG14964",
                    "type": "synonym"
                },
                {
                    "name": "MnM",
                    "type": "synonym"
                },
                {
                    "name": "dMnM",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VZT8-1",
            "evidence": [
                {
                    "id": "0110310",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110310"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110310"
}