{
    "disease_id": "DOID:0110447",
    "recommended_name": {
        "id": "DOID:0110447",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110447",
        "name": "dilated cardiomyopathy 1DD",
        "description": "A dilated cardiomyopathy that has_material_basis_in mutation in the RBM20 gene on chromosome 10q25."
    },
    "synonyms": [
        {
            "id": "DOID:0110447",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110447",
            "name": "CMD1DD",
            "description": ""
        },
        {
            "id": "MONDO:0013168",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013168",
            "name": "dilated cardiomyopathy 1DD",
            "description": "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the RBM20 gene."
        },
        {
            "id": "MONDO:0013168",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013168",
            "name": "CMD1DD",
            "description": ""
        },
        {
            "id": "MONDO:0013168",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013168",
            "name": "RBM20 familial isolated dilated cardiomyopathy",
            "description": ""
        },
        {
            "id": "MONDO:0013168",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013168",
            "name": "cardiomyopathy, dilated, type 1Dd",
            "description": ""
        },
        {
            "id": "MONDO:0013168",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013168",
            "name": "dilated cardiomyopathy type 1DD",
            "description": ""
        },
        {
            "id": "MONDO:0013168",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013168",
            "name": "familial isolated dilated cardiomyopathy caused by mutation in RBM20",
            "description": ""
        },
        {
            "id": "MONDO:0013168",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013168",
            "name": "cardiomyopathy, dilated, 1DD",
            "description": ""
        },
        {
            "id": "MIM:613172",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613172",
            "name": "Cardiomyopathy, dilated, 1DD",
            "description": "Cardiomyopathy, dilated, 1DD"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110447"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110447",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110447",
            "categories": []
        },
        {
            "id": "MONDO:0013168",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013168",
            "categories": []
        },
        {
            "id": "MIM:613172",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613172",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q3UQS8-1",
            "uniprot_ac": "Q3UQS8",
            "uniprot_id": "RBM20_MOUSE",
            "refseq_ac": "NP_001164318",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "RNA-binding protein 20",
                    "type": "recommended"
                },
                {
                    "name": "RNA-binding motif protein 20",
                    "type": "synonym"
                },
                {
                    "name": "RNA-binding protein 20",
                    "type": "synonym"
                },
                {
                    "name": "probable RNA-binding protein 20",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rbm20",
                    "type": "recommended"
                },
                {
                    "name": "1110018J23Rik",
                    "type": "synonym"
                },
                {
                    "name": "2010003H22Rik",
                    "type": "synonym"
                },
                {
                    "name": "Rbm20",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3UQS8-1",
            "evidence": [
                {
                    "id": "0110447",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110447"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5T481-1",
            "uniprot_ac": "Q5T481",
            "uniprot_id": "RBM20_HUMAN",
            "refseq_ac": "NP_001127835",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "RNA-binding protein 20",
                    "type": "recommended"
                },
                {
                    "name": "RNA-binding motif protein 20",
                    "type": "synonym"
                },
                {
                    "name": "RNA-binding protein 20",
                    "type": "synonym"
                },
                {
                    "name": "probable RNA-binding protein 20",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RBM20",
                    "type": "recommended"
                },
                {
                    "name": "RBM20",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5T481-1",
            "evidence": [
                {
                    "id": "613172",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613172"
                },
                {
                    "id": "0110447",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110447"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "E9PT37-1",
            "uniprot_ac": "E9PT37",
            "uniprot_id": "RBM20_RAT",
            "refseq_ac": "NP_001101081",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "RNA-binding protein 20",
                    "type": "recommended"
                },
                {
                    "name": "RNA-binding motif protein 20",
                    "type": "synonym"
                },
                {
                    "name": "RNA-binding protein 20",
                    "type": "synonym"
                },
                {
                    "name": "probable RNA-binding protein 20",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rbm20",
                    "type": "recommended"
                },
                {
                    "name": "Rbm20",
                    "type": "synonym"
                }
            ],
            "record_id": "E9PT37-1",
            "evidence": [
                {
                    "id": "0110447",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110447"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110447"
}