{
    "disease_id": "DOID:0110317",
    "recommended_name": {
        "id": "DOID:0110317",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110317",
        "name": "hypertrophic cardiomyopathy 11",
        "description": "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the ACTC1 gene on chromosome 15q14."
    },
    "synonyms": [
        {
            "id": "DOID:0110317",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110317",
            "name": "CMH11",
            "description": ""
        },
        {
            "id": "DOID:0110317",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110317",
            "name": "cardiomyopathy familial hypertrophic 11",
            "description": ""
        },
        {
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            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012799",
            "name": "hypertrophic cardiomyopathy 11",
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        },
        {
            "id": "MONDO:0012799",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012799",
            "name": "ACTC1 hypertrophic cardiomyopathy",
            "description": ""
        },
        {
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            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012799",
            "name": "CMH11",
            "description": ""
        },
        {
            "id": "MONDO:0012799",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012799",
            "name": "cardiomyopathy, familial hypertrophic, type 11",
            "description": ""
        },
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            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012799",
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            "description": ""
        },
        {
            "id": "MONDO:0012799",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012799",
            "name": "hypertrophic cardiomyopathy 11",
            "description": ""
        },
        {
            "id": "MONDO:0012799",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012799",
            "name": "hypertrophic cardiomyopathy caused by mutation in ACTC1",
            "description": ""
        },
        {
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            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012799",
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            "description": ""
        },
        {
            "id": "MONDO:0012799",
            "resource": "MONDO",
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            "name": "cardiomyopathy, familial hypertrophic, 11",
            "description": ""
        },
        {
            "id": "MIM:612098",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/612098",
            "name": "Cardiomyopathy, familial hypertrophic, 11",
            "description": "Cardiomyopathy, familial hypertrophic, 11"
        }
    ],
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            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110317",
            "categories": []
        },
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            "url": "https://monarchinitiative.org/disease/MONDO:0012799",
            "categories": []
        },
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            "url": "https://www.omim.org/entry/612098",
            "categories": []
        }
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                {
                    "name": "CLCN7",
                    "type": "recommended"
                },
                {
                    "name": "CLC-7",
                    "type": "synonym"
                },
                {
                    "name": "CLC7",
                    "type": "synonym"
                },
                {
                    "name": "CLCN7",
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                },
                {
                    "name": "HOD",
                    "type": "synonym"
                },
                {
                    "name": "OPTA2",
                    "type": "synonym"
                },
                {
                    "name": "OPTB4",
                    "type": "synonym"
                },
                {
                    "name": "PPP1R63",
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                }
            ],
            "record_id": "P51798-1",
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                {
                    "id": "0110317",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0110317"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P60709-1",
            "uniprot_ac": "P60709",
            "uniprot_id": "ACTB_HUMAN",
            "refseq_ac": "NP_001092",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Actin, cytoplasmic 1",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.-",
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                },
                {
                    "name": "Beta-actin",
                    "type": "synonym"
                },
                {
                    "name": "I(2)-actin",
                    "type": "synonym"
                },
                {
                    "name": "PS1TP5-binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "actin, cytoplasmic 1",
                    "type": "synonym"
                },
                {
                    "name": "beta cytoskeletal actin",
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                }
            ],
            "gene_names": [
                {
                    "name": "ACTB",
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                },
                {
                    "name": "ACTB",
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                },
                {
                    "name": "BKRNS",
                    "type": "synonym"
                },
                {
                    "name": "BNS",
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                },
                {
                    "name": "BRWS1",
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                },
                {
                    "name": "CSMH",
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                },
                {
                    "name": "DDS1",
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                },
                {
                    "name": "PS1TP5BP1",
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                },
                {
                    "name": "THC8",
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                }
            ],
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                    "id": "0110317",
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            ]
        },
        {
            "uniprot_canonical_ac": "P63261-1",
            "uniprot_ac": "P63261",
            "uniprot_id": "ACTG_HUMAN",
            "refseq_ac": "NP_001186883",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Actin, cytoplasmic 2",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.-",
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                },
                {
                    "name": "Gamma-actin",
                    "type": "synonym"
                },
                {
                    "name": "actin, cytoplasmic 2",
                    "type": "synonym"
                },
                {
                    "name": "cytoskeletal gamma-actin",
                    "type": "synonym"
                },
                {
                    "name": "epididymis luminal protein 176",
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                }
            ],
            "gene_names": [
                {
                    "name": "ACTG1",
                    "type": "recommended"
                },
                {
                    "name": "ACTG1",
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                },
                {
                    "name": "ACTG",
                    "type": "synonym"
                },
                {
                    "name": "ACT",
                    "type": "synonym"
                },
                {
                    "name": "DFNA20",
                    "type": "synonym"
                },
                {
                    "name": "DFNA26",
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                },
                {
                    "name": "HEL-176",
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                }
            ],
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                {
                    "id": "0110317",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110317"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110317"
}