{
    "disease_id": "DOID:0110431",
    "recommended_name": {
        "id": "DOID:0110431",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110431",
        "name": "dilated cardiomyopathy 1I",
        "description": "A dilated cardiomyopathy that has_material_basis_in mutation in the DES gene on chromosome 2q35."
    },
    "synonyms": [
        {
            "id": "DOID:0110431",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110431",
            "name": "CMD1I",
            "description": ""
        },
        {
            "id": "MONDO:0011482",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011482",
            "name": "dilated cardiomyopathy 1I",
            "description": "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the DES gene."
        },
        {
            "id": "MONDO:0011482",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011482",
            "name": "CMD1I",
            "description": ""
        },
        {
            "id": "MONDO:0011482",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011482",
            "name": "DES familial isolated dilated cardiomyopathy",
            "description": ""
        },
        {
            "id": "MONDO:0011482",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011482",
            "name": "cardiomyopathy, dilated, type 1I",
            "description": ""
        },
        {
            "id": "MONDO:0011482",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011482",
            "name": "dilated cardiomyopathy type 1I",
            "description": ""
        },
        {
            "id": "MONDO:0011482",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011482",
            "name": "familial isolated dilated cardiomyopathy caused by mutation in DES",
            "description": ""
        },
        {
            "id": "MONDO:0011482",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011482",
            "name": "cardiomyopathy, dilated, 1I",
            "description": ""
        },
        {
            "id": "MIM:604765",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/604765",
            "name": "Cardiomyopathy, dilated, 1I",
            "description": "Cardiomyopathy, dilated, 1I"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110431"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110431",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110431",
            "categories": []
        },
        {
            "id": "MONDO:0011482",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011482",
            "categories": []
        },
        {
            "id": "MIM:604765",
            "database": "MIM",
            "url": "https://www.omim.org/entry/604765",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1R8W3-1",
            "uniprot_ac": "F1R8W3",
            "uniprot_id": "F1R8W3_DANRE",
            "refseq_ac": "NP_001315305",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Desmin",
                    "type": "recommended"
                },
                {
                    "name": "desmin a isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "desma",
                    "type": "recommended"
                },
                {
                    "name": "cb290",
                    "type": "synonym"
                },
                {
                    "name": "desma",
                    "type": "synonym"
                },
                {
                    "name": "desm",
                    "type": "synonym"
                },
                {
                    "name": "des",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb59a12",
                    "type": "synonym"
                },
                {
                    "name": "zgc:109859",
                    "type": "synonym"
                }
            ],
            "record_id": "F1R8W3-1",
            "evidence": [
                {
                    "id": "0110431",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110431"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P31001-1",
            "uniprot_ac": "P31001",
            "uniprot_id": "DESM_MOUSE",
            "refseq_ac": "NP_034173",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Desmin",
                    "type": "recommended"
                },
                {
                    "name": "desmin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Des",
                    "type": "recommended"
                },
                {
                    "name": "Des",
                    "type": "synonym"
                }
            ],
            "record_id": "P31001-1",
            "evidence": [
                {
                    "id": "0110431",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110431"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P17661-1",
            "uniprot_ac": "P17661",
            "uniprot_id": "DESM_HUMAN",
            "refseq_ac": "NP_001918",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Desmin",
                    "type": "recommended"
                },
                {
                    "name": "cardiomyopathy, dilated 1F (autosomal dominant)",
                    "type": "synonym"
                },
                {
                    "name": "cardiomyopathy, dilated 1I",
                    "type": "synonym"
                },
                {
                    "name": "desmin isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein",
                    "type": "synonym"
                },
                {
                    "name": "intermediate filament protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DES",
                    "type": "recommended"
                },
                {
                    "name": "CDCD3",
                    "type": "synonym"
                },
                {
                    "name": "CSM1",
                    "type": "synonym"
                },
                {
                    "name": "CSM2",
                    "type": "synonym"
                },
                {
                    "name": "DES",
                    "type": "synonym"
                },
                {
                    "name": "LGMD1D",
                    "type": "synonym"
                },
                {
                    "name": "LGMD1E",
                    "type": "synonym"
                },
                {
                    "name": "LGMD2R",
                    "type": "synonym"
                }
            ],
            "record_id": "P17661-1",
            "evidence": [
                {
                    "id": "604765",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/604765"
                },
                {
                    "id": "0110431",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110431"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P48675-1",
            "uniprot_ac": "P48675",
            "uniprot_id": "DESM_RAT",
            "refseq_ac": "NP_071976",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Desmin",
                    "type": "recommended"
                },
                {
                    "name": "desmin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Des",
                    "type": "recommended"
                },
                {
                    "name": "Des",
                    "type": "synonym"
                }
            ],
            "record_id": "P48675-1",
            "evidence": [
                {
                    "id": "0110431",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110431"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P22717-1",
            "uniprot_ac": "P22717",
            "uniprot_id": "GCYB2_RAT",
            "refseq_ac": "NP_001257640",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Guanylate cyclase soluble subunit beta-2",
                    "type": "recommended"
                },
                {
                    "name": "4.6.1.2",
                    "type": "synonym"
                },
                {
                    "name": "GCS-beta-2",
                    "type": "synonym"
                },
                {
                    "name": "Guanylate cyclase, soluble, beta 2 (GTP pyrophosphate - lyase)",
                    "type": "synonym"
                },
                {
                    "name": "guanylate cyclase 1, soluble, beta 2",
                    "type": "synonym"
                },
                {
                    "name": "guanylate cyclase soluble subunit beta-2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "guanylate cyclase soluble subunit beta-2",
                    "type": "synonym"
                },
                {
                    "name": "soluble guanylate cyclase beta 2a",
                    "type": "synonym"
                },
                {
                    "name": "soluble guanylate cyclase beta 2b",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gucy1b2",
                    "type": "recommended"
                },
                {
                    "name": "Gucy1b2a",
                    "type": "synonym"
                },
                {
                    "name": "Gucy1b2b",
                    "type": "synonym"
                },
                {
                    "name": "Gucy1b2",
                    "type": "synonym"
                },
                {
                    "name": "SGC",
                    "type": "synonym"
                }
            ],
            "record_id": "P22717-1",
            "evidence": [
                {
                    "id": "0110431",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110431"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110431"
}