{
    "disease_id": "DOID:0110455",
    "recommended_name": {
        "id": "DOID:0110455",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0110455",
        "name": "dilated cardiomyopathy 1U",
        "description": "A dilated cardiomyopathy that has_material_basis_in mutation in the PSEN1 gene on chromosome 14q24.3."
    },
    "synonyms": [
        {
            "id": "DOID:0110455",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110455",
            "name": "CMD1U",
            "description": ""
        },
        {
            "id": "MONDO:0013371",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013371",
            "name": "dilated cardiomyopathy 1U",
            "description": "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the PSEN1 gene."
        },
        {
            "id": "MONDO:0013371",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013371",
            "name": "CMD1U",
            "description": ""
        },
        {
            "id": "MONDO:0013371",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013371",
            "name": "PSEN1 familial isolated dilated cardiomyopathy",
            "description": ""
        },
        {
            "id": "MONDO:0013371",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013371",
            "name": "cardiomyopathy, dilated, type 1U",
            "description": ""
        },
        {
            "id": "MONDO:0013371",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013371",
            "name": "dilated cardiomyopathy type 1U",
            "description": ""
        },
        {
            "id": "MONDO:0013371",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013371",
            "name": "familial isolated dilated cardiomyopathy caused by mutation in PSEN1",
            "description": ""
        },
        {
            "id": "MONDO:0013371",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013371",
            "name": "cardiomyopathy, dilated, 1U",
            "description": ""
        },
        {
            "id": "MIM:613694",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613694",
            "name": "Cardiomyopathy, dilated, 1U",
            "description": "Cardiomyopathy, dilated, 1U"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110455"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110455",
            "database": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110455",
            "categories": []
        },
        {
            "id": "MONDO:0013371",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013371",
            "categories": []
        },
        {
            "id": "MIM:613694",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613694",
            "categories": []
        }
    ],
    "proteins": [
        {
            "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",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "3.4.23.-",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "CG18803-PC; Psn-PC; dPresenilin; gamma-secretase component; lethal (3) S049314a; presenilin; lethal (3) S048015a; pre-senelin",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "DmPS",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "dPS",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "presenilin, isoform C",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Psn",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "0480/15; 0493/14; 493/14; CG18803; CG5868; Dmel\\CG18803; DmPS; Dps; DPS; dPsn; DPsn; DrosPS; gamma-secretase; l(3)77CDb; l(3)S048015a; l(3)S049314; l(3)S049314a; pres; PS; PS1; psn; PSN",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "14",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "15",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "CG18803",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "CG5868",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "DPS",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "DPsn",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "DmPS",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG18803",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG18803",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Dps",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "DrosPS",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "PS1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "PSN",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "PS",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Psn",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "dPsn",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "gamma-secretase",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "l(3)77CDb",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "l(3)S048015a",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "l(3)S049314a",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "l(3)S049314",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "pres",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "psn",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0110455",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110455"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P49769-1",
            "uniprot_ac": "P49769",
            "uniprot_id": "PSN1_MOUSE",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Presenilin-1",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "3.4.23.-",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "PS-1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Protein S182",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Psen1",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Ad3h",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Psnl1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0110455",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110455"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P49768-1",
            "uniprot_ac": "P49768",
            "uniprot_id": "PSN1_HUMAN",
            "refseq_ac": "NP_000012",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Presenilin-1",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "3.4.23.-",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "PS-1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Protein S182",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "familial Alzheimer Disease",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "presenilin-1 isoform I-467",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PSEN1",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "ACNINV3; AD3; CMD1U; FAD; PS-1; PS1; PSNL1; S182",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "AD3",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "PS1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "PSEN1",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "PSNL1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0110455",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110455"
                },
                {
                    "id": "613694",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613694"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W6T7-1",
            "uniprot_ac": "Q9W6T7",
            "uniprot_id": "PSN1_DANRE",
            "refseq_ac": "NP_571099",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Presenilin-1",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "3.4.23.-",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "PS-1",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "PS-1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Zf-PS1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "presenilin-1",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "psen1",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "pre1; psen; zf-PS1; zfPS1",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "pre1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "psen1",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "psen",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "zf-PS1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "zfPS1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0110455",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110455"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P97887-1",
            "uniprot_ac": "P97887",
            "uniprot_id": "PSN1_RAT",
            "refseq_ac": "NP_062036",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Presenilin-1",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "3.4.23.-",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "PS-1",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "PS-1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Protein S182",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "presenilin-1",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Psen1",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Psen1",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Psnl1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0110455",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110455"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110455"
}