{
    "disease_id": "DOID:0110322",
    "recommended_name": {
        "id": "DOID:0110322",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110322",
        "name": "hypertrophic cardiomyopathy 16",
        "description": "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the MYOZ2 gene on chromosome 4q26."
    },
    "synonyms": [
        {
            "id": "DOID:0110322",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110322",
            "name": "CMH16",
            "description": ""
        },
        {
            "id": "DOID:0110322",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110322",
            "name": "cardiomyopathy familial hypertrophic 16",
            "description": ""
        },
        {
            "id": "MONDO:0013455",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013455",
            "name": "hypertrophic cardiomyopathy 16",
            "description": "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYOZ2 gene."
        },
        {
            "id": "MONDO:0013455",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013455",
            "name": "CMH16",
            "description": ""
        },
        {
            "id": "MONDO:0013455",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013455",
            "name": "MYOZ2 hypertrophic cardiomyopathy",
            "description": ""
        },
        {
            "id": "MONDO:0013455",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013455",
            "name": "cardiomyopathy, familial hypertrophic, type 16",
            "description": ""
        },
        {
            "id": "MONDO:0013455",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013455",
            "name": "cardiomyopathy, hypertrophic, 16",
            "description": ""
        },
        {
            "id": "MONDO:0013455",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013455",
            "name": "hypertrophic cardiomyopathy caused by mutation in MYOZ2",
            "description": ""
        },
        {
            "id": "MONDO:0013455",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013455",
            "name": "hypertrophic cardiomyopathy type 16",
            "description": ""
        },
        {
            "id": "MONDO:0013455",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013455",
            "name": "cardiomyopathy, familial hypertrophic, 16",
            "description": ""
        },
        {
            "id": "MIM:613838",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613838",
            "name": "Cardiomyopathy, familial hypertrophic, 16",
            "description": "Cardiomyopathy, familial hypertrophic, 16"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110322"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110322",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110322",
            "categories": []
        },
        {
            "id": "MONDO:0013455",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013455",
            "categories": []
        },
        {
            "id": "MIM:613838",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613838",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9JJW5-1",
            "uniprot_ac": "Q9JJW5",
            "uniprot_id": "MYOZ2_MOUSE",
            "refseq_ac": "NP_067478",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Myozenin-2",
                    "type": "recommended"
                },
                {
                    "name": "Calsarcin-1",
                    "type": "synonym"
                },
                {
                    "name": "FATZ-related protein 2",
                    "type": "synonym"
                },
                {
                    "name": "calsarcin-1",
                    "type": "synonym"
                },
                {
                    "name": "myozenin-2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "myozenin-like 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Myoz2",
                    "type": "recommended"
                },
                {
                    "name": "1110012I24Rik",
                    "type": "synonym"
                },
                {
                    "name": "Fatz-2",
                    "type": "synonym"
                },
                {
                    "name": "Myoz2",
                    "type": "synonym"
                },
                {
                    "name": "Myozl2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9JJW5-1",
            "evidence": [
                {
                    "id": "0110322",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110322"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NPC6-1",
            "uniprot_ac": "Q9NPC6",
            "uniprot_id": "MYOZ2_HUMAN",
            "refseq_ac": "NP_057683",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Myozenin-2",
                    "type": "recommended"
                },
                {
                    "name": "Calsarcin-1",
                    "type": "synonym"
                },
                {
                    "name": "FATZ-related protein 2",
                    "type": "synonym"
                },
                {
                    "name": "calcineurin-binding protein calsarcin-1",
                    "type": "synonym"
                },
                {
                    "name": "muscle-specific protein",
                    "type": "synonym"
                },
                {
                    "name": "myozenin-2 isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MYOZ2",
                    "type": "recommended"
                },
                {
                    "name": "C4orf5",
                    "type": "synonym"
                },
                {
                    "name": "CMH16",
                    "type": "synonym"
                },
                {
                    "name": "CS-1",
                    "type": "synonym"
                },
                {
                    "name": "FATZ-2",
                    "type": "synonym"
                },
                {
                    "name": "MYOZ2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NPC6-1",
            "evidence": [
                {
                    "id": "613838",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613838"
                },
                {
                    "id": "0110322",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110322"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0G2KAQ5-1",
            "uniprot_ac": "A0A0G2KAQ5",
            "uniprot_id": "A0A0G2KAQ5_RAT",
            "refseq_ac": "NP_001386172",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Myozenin 2",
                    "type": "synonym"
                },
                {
                    "name": "calsarcin-1",
                    "type": "synonym"
                },
                {
                    "name": "myozenin-2 isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Myoz2",
                    "type": "recommended"
                },
                {
                    "name": "Myoz2",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0G2KAQ5-1",
            "evidence": [
                {
                    "id": "0110322",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110322"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110322"
}