{
    "disease_id": "DOID:0110323",
    "recommended_name": {
        "id": "DOID:0110323",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110323",
        "name": "hypertrophic cardiomyopathy 17",
        "description": "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the junctophilin gene (JPH2) on chromosome 20q12."
    },
    "synonyms": [
        {
            "id": "DOID:0110323",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110323",
            "name": "CMH17",
            "description": ""
        },
        {
            "id": "DOID:0110323",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110323",
            "name": "cardiomyopathy familial hypertrophic 17",
            "description": ""
        },
        {
            "id": "MONDO:0013474",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013474",
            "name": "hypertrophic cardiomyopathy 17",
            "description": "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the JPH2 gene."
        },
        {
            "id": "MONDO:0013474",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013474",
            "name": "CMH17",
            "description": ""
        },
        {
            "id": "MONDO:0013474",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013474",
            "name": "JPH2 hypertrophic cardiomyopathy",
            "description": ""
        },
        {
            "id": "MONDO:0013474",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013474",
            "name": "cardiomyopathy, familial hypertrophic, type 17",
            "description": ""
        },
        {
            "id": "MONDO:0013474",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013474",
            "name": "cardiomyopathy, hypertrophic, 17",
            "description": ""
        },
        {
            "id": "MONDO:0013474",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013474",
            "name": "hypertrophic cardiomyopathy caused by mutation in JPH2",
            "description": ""
        },
        {
            "id": "MONDO:0013474",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013474",
            "name": "hypertrophic cardiomyopathy type 17",
            "description": ""
        },
        {
            "id": "MONDO:0013474",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013474",
            "name": "cardiomyopathy, familial hypertrophic, 17",
            "description": ""
        },
        {
            "id": "MIM:613873",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613873",
            "name": "Cardiomyopathy, familial hypertrophic, 17",
            "description": "Cardiomyopathy, familial hypertrophic, 17"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110323"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110323",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110323",
            "categories": []
        },
        {
            "id": "MONDO:0013474",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013474",
            "categories": []
        },
        {
            "id": "MIM:613873",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613873",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9ET78-1",
            "uniprot_ac": "Q9ET78",
            "uniprot_id": "JPH2_MOUSE",
            "refseq_ac": "NP_001192005",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Junctophilin-2",
                    "type": "recommended"
                },
                {
                    "name": "JP-2",
                    "type": "synonym"
                },
                {
                    "name": "Junctophilin type 2",
                    "type": "synonym"
                },
                {
                    "name": "junctophilin type 2",
                    "type": "synonym"
                },
                {
                    "name": "junctophilin-2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Jph2",
                    "type": "recommended"
                },
                {
                    "name": "1110002E14Rik",
                    "type": "synonym"
                },
                {
                    "name": "JP-2",
                    "type": "synonym"
                },
                {
                    "name": "Jp2",
                    "type": "synonym"
                },
                {
                    "name": "Jph2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9ET78-1",
            "evidence": [
                {
                    "id": "0110323",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110323"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9BR39-1",
            "uniprot_ac": "Q9BR39",
            "uniprot_id": "JPH2_HUMAN",
            "refseq_ac": "NP_065166",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Junctophilin-2",
                    "type": "recommended"
                },
                {
                    "name": "JP-2",
                    "type": "synonym"
                },
                {
                    "name": "Junctophilin type 2",
                    "type": "synonym"
                },
                {
                    "name": "junctophilin type 2",
                    "type": "synonym"
                },
                {
                    "name": "junctophilin-2 isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "JPH2",
                    "type": "recommended"
                },
                {
                    "name": "CMD2E",
                    "type": "synonym"
                },
                {
                    "name": "CMH17",
                    "type": "synonym"
                },
                {
                    "name": "JP-2",
                    "type": "synonym"
                },
                {
                    "name": "JP2",
                    "type": "synonym"
                },
                {
                    "name": "JPH2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9BR39-1",
            "evidence": [
                {
                    "id": "613873",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613873"
                },
                {
                    "id": "0110323",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110323"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q2PS20-1",
            "uniprot_ac": "Q2PS20",
            "uniprot_id": "JPH2_RAT",
            "refseq_ac": "NP_001033063",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Junctophilin-2",
                    "type": "recommended"
                },
                {
                    "name": "JP-2",
                    "type": "synonym"
                },
                {
                    "name": "Junctophilin type 2",
                    "type": "synonym"
                },
                {
                    "name": "junctophilin type 2",
                    "type": "synonym"
                },
                {
                    "name": "junctophilin-2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Jph2",
                    "type": "recommended"
                },
                {
                    "name": "Jp2",
                    "type": "synonym"
                },
                {
                    "name": "Jph2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q2PS20-1",
            "evidence": [
                {
                    "id": "0110323",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110323"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110323"
}