{
    "disease_id": "DOID:0110318",
    "recommended_name": {
        "id": "DOID:0110318",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110318",
        "name": "hypertrophic cardiomyopathy 12",
        "description": "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the CSRP3 gene on chromosome 11p15."
    },
    "synonyms": [
        {
            "id": "DOID:0110318",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110318",
            "name": "CMH12",
            "description": ""
        },
        {
            "id": "DOID:0110318",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110318",
            "name": "cardiomyopathy familial hypertrophic 12",
            "description": ""
        },
        {
            "id": "MONDO:0012804",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012804",
            "name": "hypertrophic cardiomyopathy 12",
            "description": "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the CSRP3 gene."
        },
        {
            "id": "MONDO:0012804",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012804",
            "name": "CMH12",
            "description": ""
        },
        {
            "id": "MONDO:0012804",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012804",
            "name": "CSRP3 hypertrophic cardiomyopathy",
            "description": ""
        },
        {
            "id": "MONDO:0012804",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012804",
            "name": "cardiomyopathy, familial hypertrophic, type 12",
            "description": ""
        },
        {
            "id": "MONDO:0012804",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012804",
            "name": "cardiomyopathy, hypertrophic, 12",
            "description": ""
        },
        {
            "id": "MONDO:0012804",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012804",
            "name": "hypertrophic cardiomyopathy 12",
            "description": ""
        },
        {
            "id": "MONDO:0012804",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012804",
            "name": "hypertrophic cardiomyopathy caused by mutation in CSRP3",
            "description": ""
        },
        {
            "id": "MONDO:0012804",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012804",
            "name": "hypertrophic cardiomyopathy type 12",
            "description": ""
        },
        {
            "id": "MONDO:0012804",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012804",
            "name": "cardiomyopathy, familial hypertrophic, 12",
            "description": ""
        },
        {
            "id": "MIM:612124",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/612124",
            "name": "Cardiomyopathy, familial hypertrophic, 12",
            "description": "Cardiomyopathy, familial hypertrophic, 12"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110318"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110318",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110318",
            "categories": []
        },
        {
            "id": "MONDO:0012804",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012804",
            "categories": []
        },
        {
            "id": "MIM:612124",
            "database": "MIM",
            "url": "https://www.omim.org/entry/612124",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1QJC0-1",
            "uniprot_ac": "F1QJC0",
            "uniprot_id": "F1QJC0_DANRE",
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            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cysteine and glycine-rich protein 1",
                    "type": "recommended"
                },
                {
                    "name": "Cysteine-rich protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Muscle LIM protein",
                    "type": "synonym"
                },
                {
                    "name": "cysteine and glycine-rich protein 3 isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "csrp3",
                    "type": "recommended"
                },
                {
                    "name": "csrp3b",
                    "type": "synonym"
                },
                {
                    "name": "csrp3",
                    "type": "synonym"
                },
                {
                    "name": "zgc:103468",
                    "type": "synonym"
                }
            ],
            "record_id": "F1QJC0-1",
            "evidence": [
                {
                    "id": "0110318",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0110318"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P50462-1",
            "uniprot_ac": "P50462",
            "uniprot_id": "CSRP3_MOUSE",
            "refseq_ac": "NP_001185770",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                {
                    "name": "Cysteine and glycine-rich protein 3",
                    "type": "recommended"
                },
                {
                    "name": "CRP3",
                    "type": "synonym"
                },
                {
                    "name": "Cysteine-rich protein 3",
                    "type": "synonym"
                },
                {
                    "name": "LIM domain protein, cardiac",
                    "type": "synonym"
                },
                {
                    "name": "Muscle LIM protein",
                    "type": "synonym"
                },
                {
                    "name": "cardiac LIM protein",
                    "type": "synonym"
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                {
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                    "name": "muscle LIM protein",
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            ],
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                    "name": "Csrp3",
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                    "name": "CRP3",
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                },
                {
                    "name": "Clp",
                    "type": "synonym"
                },
                {
                    "name": "Csrp3",
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                },
                {
                    "name": "MLP",
                    "type": "synonym"
                },
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                    "name": "MMLP",
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                    "name": "Mlp",
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            ],
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                {
                    "id": "0110318",
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            ]
        },
        {
            "uniprot_canonical_ac": "P50461-1",
            "uniprot_ac": "P50461",
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            "refseq_ac": "NP_003467",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cysteine and glycine-rich protein 3",
                    "type": "recommended"
                },
                {
                    "name": "CRP3",
                    "type": "synonym"
                },
                {
                    "name": "Cardiac LIM protein",
                    "type": "synonym"
                },
                {
                    "name": "Cysteine-rich protein 3",
                    "type": "synonym"
                },
                {
                    "name": "LIM domain protein, cardiac",
                    "type": "synonym"
                },
                {
                    "name": "Muscle LIM protein",
                    "type": "synonym"
                },
                {
                    "name": "cardiac LIM domain protein",
                    "type": "synonym"
                },
                {
                    "name": "cysteine and glycine-rich protein 3 (cardiac LIM protein)",
                    "type": "synonym"
                },
                {
                    "name": "cysteine and glycine-rich protein 3 isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CSRP3",
                    "type": "recommended"
                },
                {
                    "name": "CLP",
                    "type": "synonym"
                },
                {
                    "name": "CMD1M",
                    "type": "synonym"
                },
                {
                    "name": "CMH12",
                    "type": "synonym"
                },
                {
                    "name": "CRP3",
                    "type": "synonym"
                },
                {
                    "name": "CSRP3",
                    "type": "synonym"
                },
                {
                    "name": "MLP",
                    "type": "synonym"
                }
            ],
            "record_id": "P50461-1",
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                    "id": "612124",
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                    "url": "https://www.omim.org/entry/612124"
                },
                {
                    "id": "0110318",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0110318"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P35688-1",
            "uniprot_ac": "P35688",
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            "refseq_ac": "NP_010041",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Rho-GTPase-activating protein LRG1",
                    "type": "recommended"
                },
                {
                    "name": "GTPase-activating protein LRG1",
                    "type": "synonym"
                },
                {
                    "name": "LIM-RhoGAP protein 1",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "LRG1",
                    "type": "recommended"
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                    "id": "0110318",
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                }
            ]
        },
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            "uniprot_canonical_ac": "P50463-1",
            "uniprot_ac": "P50463",
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                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                {
                    "name": "Cysteine and glycine-rich protein 3",
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                    "name": "CRP3",
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                },
                {
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                },
                {
                    "name": "LIM domain protein, cardiac",
                    "type": "synonym"
                },
                {
                    "name": "Muscle LIM protein",
                    "type": "synonym"
                },
                {
                    "name": "cysteine and glycine rich protein 3 N-terminal nuclear localization sequence",
                    "type": "synonym"
                },
                {
                    "name": "cysteine and glycine rich protein 3 c-terminal HA-tagged",
                    "type": "synonym"
                },
                {
                    "name": "cysteine and glycine rich protein 3 lacking the LIM1-domain",
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                {
                    "name": "cysteine and glycine-rich protein 3 (cardiac LIM protein)",
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                {
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                    "name": "muscle LIM protein",
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                }
            ],
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                    "name": "Csrp3",
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                    "name": "Csrp3",
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                    "name": "Mlp",
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                    "id": "0110318",
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            "uniprot_canonical_ac": "P12938-1",
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                    "name": "Rattus norvegicus",
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                    "reference_species": "Rattus norvegicus [10116]"
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            ],
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                    "name": "Cytochrome P450 2D3",
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                    "name": "1.14.14.1",
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                    "name": "CYPIID3",
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                {
                    "name": "Cytochrome P450, subfamily IID3",
                    "type": "synonym"
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                {
                    "name": "Cytochrome P450-DB3",
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                    "name": "Debrisoquine 4-hydroxylase",
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                    "name": "P450-DB3",
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                    "name": "cytochrome P450, family 2, subfamily d, polypeptide 13",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450, family 2, subfamily d, polypeptide 6",
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                    "name": "cytochrome P450-DB3",
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                    "name": "debrisoquine 4-hydroxylase",
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            ],
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                    "name": "Cyp2d3",
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                {
                    "name": "Cyp2d13",
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                {
                    "name": "Cyp2d3",
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                    "name": "Cyp2d6",
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                    "id": "0110318",
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            "species": [
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                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
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                {
                    "name": "Muscle LIM protein Mlp84B",
                    "type": "recommended"
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                {
                    "name": "CG1019-PC",
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                {
                    "name": "LIM protein 84B",
                    "type": "synonym"
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                {
                    "name": "Mlp84B-PC",
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                {
                    "name": "Muscle-specific LIM protein at 84B",
                    "type": "synonym"
                },
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                    "name": "muscle LIM protein at 84B, isoform C",
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                    "name": "muscle LIM protein",
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                    "name": "Mlp84B",
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                    "name": "CG1019",
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                },
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                    "name": "DLim-3",
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                },
                {
                    "name": "DmLIM-3",
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                    "name": "Dmel\\CG1019",
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                    "name": "LIM3",
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                    "name": "MLP84B",
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                    "name": "MLP",
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                    "name": "Mlmu84B",
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                {
                    "name": "Mlp84B",
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                {
                    "name": "Mlp84b",
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                    "name": "Mlp",
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                    "name": "dMlp84B",
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                {
                    "name": "mlp84B",
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                {
                    "name": "mlp",
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                    "id": "0110318",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0110318"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110318"
}