{
    "disease_id": "DOID:0110427",
    "recommended_name": {
        "id": "DOID:0110427",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110427",
        "name": "dilated cardiomyopathy 1V",
        "description": "A dilated cardiomyopathy that has_material_basis_in mutation in the PSEN2 gene on chromosome 1q31-q42."
    },
    "synonyms": [
        {
            "id": "DOID:0110427",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110427",
            "name": "CMD1V",
            "description": ""
        },
        {
            "id": "MONDO:0013373",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013373",
            "name": "dilated cardiomyopathy 1V",
            "description": "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the PSEN2 gene."
        },
        {
            "id": "MONDO:0013373",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013373",
            "name": "CMD1V",
            "description": ""
        },
        {
            "id": "MONDO:0013373",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013373",
            "name": "PSEN2 familial isolated dilated cardiomyopathy",
            "description": ""
        },
        {
            "id": "MONDO:0013373",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013373",
            "name": "cardiomyopathy, dilated, type 1V",
            "description": ""
        },
        {
            "id": "MONDO:0013373",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013373",
            "name": "dilated cardiomyopathy type 1V",
            "description": ""
        },
        {
            "id": "MONDO:0013373",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013373",
            "name": "familial isolated dilated cardiomyopathy caused by mutation in PSEN2",
            "description": ""
        },
        {
            "id": "MONDO:0013373",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013373",
            "name": "cardiomyopathy, dilated, 1V",
            "description": ""
        },
        {
            "id": "MIM:613697",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613697",
            "name": "Cardiomyopathy, dilated, 1V",
            "description": "Cardiomyopathy, dilated, 1V"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110427"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110427",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110427",
            "categories": []
        },
        {
            "id": "MONDO:0013373",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013373",
            "categories": []
        },
        {
            "id": "MIM:613697",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613697",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q90ZE4-1",
            "uniprot_ac": "Q90ZE4",
            "uniprot_id": "PSN2_DANRE",
            "refseq_ac": "NP_571589",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Presenilin-2",
                    "type": "recommended"
                },
                {
                    "name": "3.4.23.-",
                    "type": "synonym"
                },
                {
                    "name": "PS-2",
                    "type": "synonym"
                },
                {
                    "name": "Pre2",
                    "type": "synonym"
                },
                {
                    "name": "Zf-PS2",
                    "type": "synonym"
                },
                {
                    "name": "presenilin-2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "psen2",
                    "type": "recommended"
                },
                {
                    "name": "pre2",
                    "type": "synonym"
                },
                {
                    "name": "psen2",
                    "type": "synonym"
                },
                {
                    "name": "zf-PS2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q90ZE4-1",
            "evidence": [
                {
                    "id": "0110427",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110427"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q61144-1",
            "uniprot_ac": "Q61144",
            "uniprot_id": "PSN2_MOUSE",
            "refseq_ac": "NP_001122077",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Presenilin-2",
                    "type": "recommended"
                },
                {
                    "name": "3.4.23.-",
                    "type": "synonym"
                },
                {
                    "name": "PS-2",
                    "type": "synonym"
                },
                {
                    "name": "presenilin-2 isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Psen2",
                    "type": "recommended"
                },
                {
                    "name": "ALG-3",
                    "type": "synonym"
                },
                {
                    "name": "Ad4h",
                    "type": "synonym"
                },
                {
                    "name": "Alg3",
                    "type": "synonym"
                },
                {
                    "name": "PS-2",
                    "type": "synonym"
                },
                {
                    "name": "PS2",
                    "type": "synonym"
                },
                {
                    "name": "Ps-2",
                    "type": "synonym"
                },
                {
                    "name": "Ps2",
                    "type": "synonym"
                },
                {
                    "name": "Psen2",
                    "type": "synonym"
                },
                {
                    "name": "Psnl2",
                    "type": "synonym"
                },
                {
                    "name": "STM2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q61144-1",
            "evidence": [
                {
                    "id": "0110427",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110427"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P49810-1",
            "uniprot_ac": "P49810",
            "uniprot_id": "PSN2_HUMAN",
            "refseq_ac": "NP_000438",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Presenilin-2",
                    "type": "recommended"
                },
                {
                    "name": "3.4.23.-",
                    "type": "synonym"
                },
                {
                    "name": "AD3LP",
                    "type": "synonym"
                },
                {
                    "name": "AD5",
                    "type": "synonym"
                },
                {
                    "name": "Alzheimer disease 3-like",
                    "type": "synonym"
                },
                {
                    "name": "Alzheimer disease 4",
                    "type": "synonym"
                },
                {
                    "name": "E5-1",
                    "type": "synonym"
                },
                {
                    "name": "PS-2",
                    "type": "synonym"
                },
                {
                    "name": "STM-2",
                    "type": "synonym"
                },
                {
                    "name": "presenilin-2 isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PSEN2",
                    "type": "recommended"
                },
                {
                    "name": "AD3L",
                    "type": "synonym"
                },
                {
                    "name": "AD4",
                    "type": "synonym"
                },
                {
                    "name": "CMD1V",
                    "type": "synonym"
                },
                {
                    "name": "PS2",
                    "type": "synonym"
                },
                {
                    "name": "PSEN2",
                    "type": "synonym"
                },
                {
                    "name": "PSNL2",
                    "type": "synonym"
                },
                {
                    "name": "STM2",
                    "type": "synonym"
                }
            ],
            "record_id": "P49810-1",
            "evidence": [
                {
                    "id": "613697",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613697"
                },
                {
                    "id": "0110427",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110427"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O88777-1",
            "uniprot_ac": "O88777",
            "uniprot_id": "PSN2_RAT",
            "refseq_ac": "NP_112349",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Presenilin-2",
                    "type": "recommended"
                },
                {
                    "name": "3.4.23.-",
                    "type": "synonym"
                },
                {
                    "name": "PS-2",
                    "type": "synonym"
                },
                {
                    "name": "presenilin-2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Psen2",
                    "type": "recommended"
                },
                {
                    "name": "Ps2",
                    "type": "synonym"
                },
                {
                    "name": "Psen2",
                    "type": "synonym"
                },
                {
                    "name": "Psnl2",
                    "type": "synonym"
                }
            ],
            "record_id": "O88777-1",
            "evidence": [
                {
                    "id": "0110427",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110427"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O02194-1",
            "uniprot_ac": "O02194",
            "uniprot_id": "PSN_DROME",
            "refseq_ac": "NP_001137988",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Presenilin homolog",
                    "type": "recommended"
                },
                {
                    "name": "3.4.23.-",
                    "type": "synonym"
                },
                {
                    "name": "CG18803-PC",
                    "type": "synonym"
                },
                {
                    "name": "DmPS",
                    "type": "synonym"
                },
                {
                    "name": "Psn-PC",
                    "type": "synonym"
                },
                {
                    "name": "dPS",
                    "type": "synonym"
                },
                {
                    "name": "dPresenilin",
                    "type": "synonym"
                },
                {
                    "name": "gamma-secretase component",
                    "type": "synonym"
                },
                {
                    "name": "lethal (3) S048015a",
                    "type": "synonym"
                },
                {
                    "name": "lethal (3) S049314a",
                    "type": "synonym"
                },
                {
                    "name": "pre-senelin",
                    "type": "synonym"
                },
                {
                    "name": "presenilin, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "presenilin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Psn",
                    "type": "recommended"
                },
                {
                    "name": "0480/15",
                    "type": "synonym"
                },
                {
                    "name": "0493/14",
                    "type": "synonym"
                },
                {
                    "name": "14",
                    "type": "synonym"
                },
                {
                    "name": "15",
                    "type": "synonym"
                },
                {
                    "name": "493/14",
                    "type": "synonym"
                },
                {
                    "name": "CG18803",
                    "type": "synonym"
                },
                {
                    "name": "CG5868",
                    "type": "synonym"
                },
                {
                    "name": "DPS",
                    "type": "synonym"
                },
                {
                    "name": "DPsn",
                    "type": "synonym"
                },
                {
                    "name": "DmPS",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG18803",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG18803",
                    "type": "synonym"
                },
                {
                    "name": "Dps",
                    "type": "synonym"
                },
                {
                    "name": "DrosPS",
                    "type": "synonym"
                },
                {
                    "name": "PS1",
                    "type": "synonym"
                },
                {
                    "name": "PSN",
                    "type": "synonym"
                },
                {
                    "name": "PS",
                    "type": "synonym"
                },
                {
                    "name": "Psn",
                    "type": "synonym"
                },
                {
                    "name": "dPsn",
                    "type": "synonym"
                },
                {
                    "name": "gamma-secretase",
                    "type": "synonym"
                },
                {
                    "name": "l(3)77CDb",
                    "type": "synonym"
                },
                {
                    "name": "l(3)S048015a",
                    "type": "synonym"
                },
                {
                    "name": "l(3)S049314a",
                    "type": "synonym"
                },
                {
                    "name": "l(3)S049314",
                    "type": "synonym"
                },
                {
                    "name": "pres",
                    "type": "synonym"
                },
                {
                    "name": "psn",
                    "type": "synonym"
                }
            ],
            "record_id": "O02194-1",
            "evidence": [
                {
                    "id": "0110427",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110427"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110427"
}