{
    "disease_id": "DOID:0110439",
    "recommended_name": {
        "id": "DOID:0110439",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110439",
        "name": "dilated cardiomyopathy 1P",
        "description": "A dilated cardiomyopathy that has_material_basis_in mutation in the PLN gene on chromosome 6q22."
    },
    "synonyms": [
        {
            "id": "DOID:0110439",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110439",
            "name": "CMD1P",
            "description": ""
        },
        {
            "id": "MONDO:0012362",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012362",
            "name": "dilated cardiomyopathy 1P",
            "description": "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the PLN gene."
        },
        {
            "id": "MONDO:0012362",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012362",
            "name": "CMD1P",
            "description": ""
        },
        {
            "id": "MONDO:0012362",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012362",
            "name": "PLN familial isolated dilated cardiomyopathy",
            "description": ""
        },
        {
            "id": "MONDO:0012362",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012362",
            "name": "cardiomyopathy, dilated, 1P",
            "description": ""
        },
        {
            "id": "MONDO:0012362",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012362",
            "name": "cardiomyopathy, dilated, type 1P",
            "description": ""
        },
        {
            "id": "MONDO:0012362",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012362",
            "name": "dilated cardiomyopathy type 1P",
            "description": ""
        },
        {
            "id": "MONDO:0012362",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012362",
            "name": "familial isolated dilated cardiomyopathy caused by mutation in PLN",
            "description": ""
        },
        {
            "id": "MIM:609909",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/609909",
            "name": "Cardiomyopathy, dilated, 1P",
            "description": "Cardiomyopathy, dilated, 1P"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110439"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110439",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110439",
            "categories": []
        },
        {
            "id": "MONDO:0012362",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012362",
            "categories": []
        },
        {
            "id": "MIM:609909",
            "database": "MIM",
            "url": "https://www.omim.org/entry/609909",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1P2H4-1",
            "uniprot_ac": "A0A8M1P2H4",
            "uniprot_id": "A0A8M1P2H4_DANRE",
            "refseq_ac": "NP_001188490",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phospholamban",
                    "type": "recommended"
                },
                {
                    "name": "PLB",
                    "type": "synonym"
                },
                {
                    "name": "cardiac phospholamban-like",
                    "type": "synonym"
                },
                {
                    "name": "phospholamban",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "pln1",
                    "type": "recommended"
                },
                {
                    "name": "pln1",
                    "type": "synonym"
                },
                {
                    "name": "pln",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-260o22.1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1P2H4-1",
            "evidence": [
                {
                    "id": "0110439",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110439"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P61014-1",
            "uniprot_ac": "P61014",
            "uniprot_id": "PPLA_MOUSE",
            "refseq_ac": "NP_001135399",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phospholamban",
                    "type": "recommended"
                },
                {
                    "name": "PLB",
                    "type": "synonym"
                },
                {
                    "name": "cardiac phospholamban",
                    "type": "synonym"
                },
                {
                    "name": "phospholamban",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pln",
                    "type": "recommended"
                },
                {
                    "name": "Plb",
                    "type": "synonym"
                },
                {
                    "name": "Pln",
                    "type": "synonym"
                }
            ],
            "record_id": "P61014-1",
            "evidence": [
                {
                    "id": "0110439",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110439"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P26678-1",
            "uniprot_ac": "P26678",
            "uniprot_id": "PPLA_HUMAN",
            "refseq_ac": "NP_002658",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phospholamban",
                    "type": "recommended"
                },
                {
                    "name": "PLB",
                    "type": "synonym"
                },
                {
                    "name": "cardiac phospholamban",
                    "type": "synonym"
                },
                {
                    "name": "phospholamban",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PLN",
                    "type": "recommended"
                },
                {
                    "name": "CMD1P",
                    "type": "synonym"
                },
                {
                    "name": "CMH18",
                    "type": "synonym"
                },
                {
                    "name": "PLB",
                    "type": "synonym"
                },
                {
                    "name": "PLN",
                    "type": "synonym"
                }
            ],
            "record_id": "P26678-1",
            "evidence": [
                {
                    "id": "609909",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/609909"
                },
                {
                    "id": "0110439",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110439"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P61016-1",
            "uniprot_ac": "P61016",
            "uniprot_id": "PPLA_RAT",
            "refseq_ac": "NP_073198",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phospholamban",
                    "type": "recommended"
                },
                {
                    "name": "PLB",
                    "type": "synonym"
                },
                {
                    "name": "cardiac phospholamban",
                    "type": "synonym"
                },
                {
                    "name": "phospholamban",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pln",
                    "type": "recommended"
                },
                {
                    "name": "Plm",
                    "type": "synonym"
                },
                {
                    "name": "Pln",
                    "type": "synonym"
                }
            ],
            "record_id": "P61016-1",
            "evidence": [
                {
                    "id": "0110439",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110439"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110439"
}