{
    "disease_id": "DOID:0081161",
    "recommended_name": {
        "id": "DOID:0081161",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081161",
        "name": "dilated cardiomyopathy 2E",
        "description": "A dilated cardiomyopathy that is characterized by neonatal or early childhood onset of dilated cardiomyopathy, with rapid progression to cardiac failure and death unless patients undergo cardiac transplantation and that has_material_basis_in homozygous or compound heterozygous mutation in the JPH2 gene on chromosome 20q13."
    },
    "synonyms": [
        {
            "id": "MONDO:0030366",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030366",
            "name": "cardiomyopathy, dilated, 2E",
            "description": "A dilated cardiomyopathy that is characterized by neonatal or early childhood onset of dilated cardiomyopathy, with rapid progression to cardiac failure and death unless patients undergo cardiac transplantation and that has material basis in homozygous or compound heterozygous mutation in the JPH2 gene on chromosome 20q13."
        },
        {
            "id": "MONDO:0030366",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030366",
            "name": "CMD2E",
            "description": ""
        },
        {
            "id": "MONDO:0030366",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030366",
            "name": "cardiomyopathy, dilated, 2E",
            "description": ""
        },
        {
            "id": "MIM:619492",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619492",
            "name": "Cardiomyopathy, dilated, 2E",
            "description": "Cardiomyopathy, dilated, 2E"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081161"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081161",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081161",
            "categories": []
        },
        {
            "id": "MONDO:0030366",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030366",
            "categories": []
        },
        {
            "id": "MIM:619492",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619492",
            "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": "0081161",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081161"
                }
            ]
        },
        {
            "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": "619492",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619492"
                },
                {
                    "id": "0081161",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081161"
                }
            ]
        },
        {
            "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": "0081161",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081161"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081161"
}