{
    "disease_id": "DOID:0110327",
    "recommended_name": {
        "id": "DOID:0110327",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110327",
        "name": "hypertrophic cardiomyopathy 26",
        "description": "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the FLNC gene on chromosome 7q32."
    },
    "synonyms": [
        {
            "id": "DOID:0110327",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110327",
            "name": "CMH26",
            "description": ""
        },
        {
            "id": "DOID:0110327",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110327",
            "name": "cardiomyopathy familial hypertrophic 26",
            "description": ""
        },
        {
            "id": "MONDO:0014883",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014883",
            "name": "hypertrophic cardiomyopathy 26",
            "description": "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the FLNC gene."
        },
        {
            "id": "MONDO:0014883",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014883",
            "name": "CMH26",
            "description": ""
        },
        {
            "id": "MONDO:0014883",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014883",
            "name": "FLNC hypertrophic cardiomyopathy",
            "description": ""
        },
        {
            "id": "MONDO:0014883",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014883",
            "name": "cardiomyopathy, familial hypertrophic, 26",
            "description": ""
        },
        {
            "id": "MONDO:0014883",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014883",
            "name": "cardiomyopathy, familial hypertrophic, type 26",
            "description": ""
        },
        {
            "id": "MONDO:0014883",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014883",
            "name": "cardiomyopathy, familial restrictive 5",
            "description": ""
        },
        {
            "id": "MONDO:0014883",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014883",
            "name": "hypertrophic cardiomyopathy caused by mutation in FLNC",
            "description": ""
        },
        {
            "id": "MONDO:0014883",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014883",
            "name": "hypertrophic cardiomyopathy type 26",
            "description": ""
        },
        {
            "id": "MIM:617047",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617047",
            "name": "Cardiomyopathy, familial hypertrophic, 26",
            "description": "Cardiomyopathy, familial hypertrophic, 26"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110327"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110327",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110327",
            "categories": []
        },
        {
            "id": "MONDO:0014883",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014883",
            "categories": []
        },
        {
            "id": "MIM:617047",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617047",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9PHR9-1",
            "uniprot_ac": "A0A8M9PHR9",
            "uniprot_id": "A0A8M9PHR9_DANRE",
            "refseq_ac": "XP_009298480",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Filamin-C isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "filamin-C isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "flncb",
                    "type": "recommended"
                },
                {
                    "name": "flncb",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9PHR9-1",
            "evidence": [
                {
                    "id": "0110327",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110327"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0AC58IZ27-1",
            "uniprot_ac": "A0AC58IZ27",
            "uniprot_id": "A0AC58IZ27_DANRE",
            "refseq_ac": "XP_073799477",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                {
                    "name": "Filamin-C isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "filamin-C isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "flnca",
                    "type": "recommended"
                },
                {
                    "name": "flnca",
                    "type": "synonym"
                }
            ],
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                    "id": "0110327",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0110327"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8VHX6-1",
            "uniprot_ac": "Q8VHX6",
            "uniprot_id": "FLNC_MOUSE",
            "refseq_ac": "NP_001074654",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Filamin-C",
                    "type": "recommended"
                },
                {
                    "name": "ABP-280-like protein",
                    "type": "synonym"
                },
                {
                    "name": "ABP-L",
                    "type": "synonym"
                },
                {
                    "name": "Actin-binding-like protein",
                    "type": "synonym"
                },
                {
                    "name": "FLN-C",
                    "type": "synonym"
                },
                {
                    "name": "Filamin-2",
                    "type": "synonym"
                },
                {
                    "name": "Gamma-filamin",
                    "type": "synonym"
                },
                {
                    "name": "actin-binding protein 280",
                    "type": "synonym"
                },
                {
                    "name": "actin-binding-like protein",
                    "type": "synonym"
                },
                {
                    "name": "filamin-2",
                    "type": "synonym"
                },
                {
                    "name": "filamin-C isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "filamin-C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Flnc",
                    "type": "recommended"
                },
                {
                    "name": "1110055E19Rik",
                    "type": "synonym"
                },
                {
                    "name": "ABP-280",
                    "type": "synonym"
                },
                {
                    "name": "ABPL",
                    "type": "synonym"
                },
                {
                    "name": "Abpl",
                    "type": "synonym"
                },
                {
                    "name": "Fln2",
                    "type": "synonym"
                },
                {
                    "name": "Flnc",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8VHX6-1",
            "evidence": [
                {
                    "id": "0110327",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110327"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q14315-1",
            "uniprot_ac": "Q14315",
            "uniprot_id": "FLNC_HUMAN",
            "refseq_ac": "NP_001120959",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Filamin-C",
                    "type": "recommended"
                },
                {
                    "name": "ABP-280-like protein",
                    "type": "synonym"
                },
                {
                    "name": "ABP-L, gamma filamin",
                    "type": "synonym"
                },
                {
                    "name": "ABP-L",
                    "type": "synonym"
                },
                {
                    "name": "Actin-binding-like protein",
                    "type": "synonym"
                },
                {
                    "name": "FLN-C",
                    "type": "synonym"
                },
                {
                    "name": "FLNc",
                    "type": "synonym"
                },
                {
                    "name": "Filamin-2",
                    "type": "synonym"
                },
                {
                    "name": "Gamma-filamin",
                    "type": "synonym"
                },
                {
                    "name": "actin binding protein 280",
                    "type": "synonym"
                },
                {
                    "name": "filamin C, gamma",
                    "type": "synonym"
                },
                {
                    "name": "filamin-2",
                    "type": "synonym"
                },
                {
                    "name": "filamin-C isoform b",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FLNC",
                    "type": "recommended"
                },
                {
                    "name": "ABP-280",
                    "type": "synonym"
                },
                {
                    "name": "ABP280A",
                    "type": "synonym"
                },
                {
                    "name": "ABPA",
                    "type": "synonym"
                },
                {
                    "name": "ABPL",
                    "type": "synonym"
                },
                {
                    "name": "ARVC15",
                    "type": "synonym"
                },
                {
                    "name": "CMD1PP",
                    "type": "synonym"
                },
                {
                    "name": "CMH26",
                    "type": "synonym"
                },
                {
                    "name": "FLN2",
                    "type": "synonym"
                },
                {
                    "name": "FLNC",
                    "type": "synonym"
                },
                {
                    "name": "MFM5",
                    "type": "synonym"
                },
                {
                    "name": "MPD4",
                    "type": "synonym"
                },
                {
                    "name": "RCM5",
                    "type": "synonym"
                }
            ],
            "record_id": "Q14315-1",
            "evidence": [
                {
                    "id": "617047",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617047"
                },
                {
                    "id": "0110327",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110327"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZHA0-1",
            "uniprot_ac": "D3ZHA0",
            "uniprot_id": "FLNC_RAT",
            "refseq_ac": "NP_001178791",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Filamin-C",
                    "type": "recommended"
                },
                {
                    "name": "ABP-280-like protein",
                    "type": "synonym"
                },
                {
                    "name": "ABP-L",
                    "type": "synonym"
                },
                {
                    "name": "Actin-binding-like protein",
                    "type": "synonym"
                },
                {
                    "name": "FLN-C",
                    "type": "synonym"
                },
                {
                    "name": "Filamin-2",
                    "type": "synonym"
                },
                {
                    "name": "Gamma-filamin",
                    "type": "synonym"
                },
                {
                    "name": "actin-binding-like protein",
                    "type": "synonym"
                },
                {
                    "name": "filamin C, gamma (actin binding protein 280)",
                    "type": "synonym"
                },
                {
                    "name": "filamin-2",
                    "type": "synonym"
                },
                {
                    "name": "filamin-C",
                    "type": "synonym"
                },
                {
                    "name": "gamma-filamin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Flnc",
                    "type": "recommended"
                },
                {
                    "name": "ABP-L",
                    "type": "synonym"
                },
                {
                    "name": "Abpl",
                    "type": "synonym"
                },
                {
                    "name": "FLN-C",
                    "type": "synonym"
                },
                {
                    "name": "Fln2",
                    "type": "synonym"
                },
                {
                    "name": "Flnc",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZHA0-1",
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                    "id": "0110327",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0110327"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VEN1-1",
            "uniprot_ac": "Q9VEN1",
            "uniprot_id": "FLNA_DROME",
            "refseq_ac": "NP_001262656",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Filamin-A",
                    "type": "recommended"
                },
                {
                    "name": "ABP-280",
                    "type": "synonym"
                },
                {
                    "name": "Actin-binding protein 280",
                    "type": "synonym"
                },
                {
                    "name": "CG3937-PK",
                    "type": "synonym"
                },
                {
                    "name": "FLN-A",
                    "type": "synonym"
                },
                {
                    "name": "Filamin-1",
                    "type": "synonym"
                },
                {
                    "name": "Filamin-A",
                    "type": "synonym"
                },
                {
                    "name": "Filamin-B",
                    "type": "synonym"
                },
                {
                    "name": "Filamin1",
                    "type": "synonym"
                },
                {
                    "name": "cheerio, isoform K",
                    "type": "synonym"
                },
                {
                    "name": "cheerio",
                    "type": "synonym"
                },
                {
                    "name": "cher-PK",
                    "type": "synonym"
                },
                {
                    "name": "cherrio",
                    "type": "synonym"
                },
                {
                    "name": "filamin B",
                    "type": "synonym"
                },
                {
                    "name": "filamin isoform B",
                    "type": "synonym"
                },
                {
                    "name": "filamin-240",
                    "type": "synonym"
                },
                {
                    "name": "shi kong",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cher",
                    "type": "recommended"
                },
                {
                    "name": "CG3937",
                    "type": "synonym"
                },
                {
                    "name": "Cheerio",
                    "type": "synonym"
                },
                {
                    "name": "Cher",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3937",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG3937",
                    "type": "synonym"
                },
                {
                    "name": "FLN90",
                    "type": "synonym"
                },
                {
                    "name": "FLN",
                    "type": "synonym"
                },
                {
                    "name": "Fil",
                    "type": "synonym"
                },
                {
                    "name": "cheerio",
                    "type": "synonym"
                },
                {
                    "name": "cher",
                    "type": "synonym"
                },
                {
                    "name": "dFil",
                    "type": "synonym"
                },
                {
                    "name": "filamin",
                    "type": "synonym"
                },
                {
                    "name": "joy",
                    "type": "synonym"
                },
                {
                    "name": "sko",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VEN1-1",
            "evidence": [
                {
                    "id": "0110327",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110327"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110327"
}