{
    "disease_id": "DOID:0110432",
    "recommended_name": {
        "id": "DOID:0110432",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110432",
        "name": "dilated cardiomyopathy 1NN",
        "description": "A dilated cardiomyopathy that has_material_basis_in mutation in the RAF1 gene on chromosome 3p25."
    },
    "synonyms": [
        {
            "id": "DOID:0110432",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110432",
            "name": "CMD1NN",
            "description": ""
        },
        {
            "id": "MONDO:0014396",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014396",
            "name": "dilated cardiomyopathy 1NN",
            "description": "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the RAF1 gene."
        },
        {
            "id": "MONDO:0014396",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014396",
            "name": "CMD1NN",
            "description": ""
        },
        {
            "id": "MONDO:0014396",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014396",
            "name": "RAF1 familial isolated dilated cardiomyopathy",
            "description": ""
        },
        {
            "id": "MONDO:0014396",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014396",
            "name": "cardiomyopathy, dilated, type 1Nn",
            "description": ""
        },
        {
            "id": "MONDO:0014396",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014396",
            "name": "dilated cardiomyopathy type 1NN",
            "description": ""
        },
        {
            "id": "MONDO:0014396",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014396",
            "name": "familial isolated dilated cardiomyopathy caused by mutation in RAF1",
            "description": ""
        },
        {
            "id": "MONDO:0014396",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014396",
            "name": "cardiomyopathy, dilated, 1NN",
            "description": ""
        },
        {
            "id": "MIM:615916",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615916",
            "name": "Cardiomyopathy, dilated, 1NN",
            "description": "Cardiomyopathy, dilated, 1NN"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110432"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110432",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110432",
            "categories": []
        },
        {
            "id": "MONDO:0014396",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014396",
            "categories": []
        },
        {
            "id": "MIM:615916",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615916",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1NV26-1",
            "uniprot_ac": "A0A8M1NV26",
            "uniprot_id": "A0A8M1NV26_DANRE",
            "refseq_ac": "NP_001186684",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                {
                    "name": "RAF proto-oncogene serine/threonine-protein kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "RAF proto-oncogene serine/threonine-protein kinase",
                    "type": "synonym"
                },
                {
                    "name": "Raf-1",
                    "type": "synonym"
                },
                {
                    "name": "v-raf-1 murine leukemia viral oncogene homolog 1b",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "raf1b",
                    "type": "recommended"
                },
                {
                    "name": "raf1b",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1NV26-1",
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                {
                    "id": "0110432",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110432"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0R4IN14-1",
            "uniprot_ac": "A0A0R4IN14",
            "uniprot_id": "A0A0R4IN14_DANRE",
            "refseq_ac": "NP_571514",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                {
                    "name": "RAF proto-oncogene serine/threonine-protein kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "Raf-1 proto-oncogene, serine/threonine kinase a",
                    "type": "synonym"
                },
                {
                    "name": "Raf-1",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine protein kinase RAF1",
                    "type": "synonym"
                },
                {
                    "name": "v-raf-1 murine leukemia viral oncogene homolog 1a",
                    "type": "synonym"
                },
                {
                    "name": "v-raf-1 murine leukemia viral oncogene homolog 1",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "raf1a",
                    "type": "recommended"
                },
                {
                    "name": "c-raf",
                    "type": "synonym"
                },
                {
                    "name": "craf",
                    "type": "synonym"
                },
                {
                    "name": "raf1a",
                    "type": "synonym"
                },
                {
                    "name": "raf1",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0110432",
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                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q99N57-1",
            "uniprot_ac": "Q99N57",
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            "refseq_ac": "NP_084056",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "RAF proto-oncogene serine/threonine-protein kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "Craf1 transforming",
                    "type": "synonym"
                },
                {
                    "name": "Proto-oncogene c-RAF",
                    "type": "synonym"
                },
                {
                    "name": "RAF proto-oncogene serine/threonine-protein kinase isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "RAF proto-oncogene serine/threonine-protein kinase",
                    "type": "synonym"
                },
                {
                    "name": "Raf-1",
                    "type": "synonym"
                },
                {
                    "name": "cRaf",
                    "type": "synonym"
                },
                {
                    "name": "murine sarcoma 3611 oncogene 1",
                    "type": "synonym"
                },
                {
                    "name": "proto-oncogene c-RAF",
                    "type": "synonym"
                },
                {
                    "name": "v-raf-leukemia viral oncogene 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Raf1",
                    "type": "recommended"
                },
                {
                    "name": "6430402F14Rik",
                    "type": "synonym"
                },
                {
                    "name": "Craf1",
                    "type": "synonym"
                },
                {
                    "name": "Craf",
                    "type": "synonym"
                },
                {
                    "name": "D830050J10Rik",
                    "type": "synonym"
                },
                {
                    "name": "Raf-1",
                    "type": "synonym"
                },
                {
                    "name": "Raf1",
                    "type": "synonym"
                },
                {
                    "name": "c-Raf",
                    "type": "synonym"
                },
                {
                    "name": "cRaf",
                    "type": "synonym"
                },
                {
                    "name": "v-Raf",
                    "type": "synonym"
                }
            ],
            "record_id": "Q99N57-1",
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                {
                    "id": "0110432",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110432"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P04049-1",
            "uniprot_ac": "P04049",
            "uniprot_id": "RAF1_HUMAN",
            "refseq_ac": "NP_002871",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "RAF proto-oncogene serine/threonine-protein kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "C-Raf proto-oncogene, serine/threonine kinase",
                    "type": "synonym"
                },
                {
                    "name": "Oncogene RAF1",
                    "type": "synonym"
                },
                {
                    "name": "Proto-oncogene c-RAF",
                    "type": "synonym"
                },
                {
                    "name": "RAF proto-oncogene serine/threonine-protein kinase isoform b",
                    "type": "synonym"
                },
                {
                    "name": "RAF proto-oncogene serine/threonine-protein kinase",
                    "type": "synonym"
                },
                {
                    "name": "Raf-1",
                    "type": "synonym"
                },
                {
                    "name": "cRaf",
                    "type": "synonym"
                },
                {
                    "name": "proto-oncogene c-RAF",
                    "type": "synonym"
                },
                {
                    "name": "raf proto-oncogene serine/threonine protein kinase",
                    "type": "synonym"
                },
                {
                    "name": "v-raf-1 murine leukemia viral oncogene homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "v-raf-1 murine leukemia viral oncogene-like protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RAF1",
                    "type": "recommended"
                },
                {
                    "name": "CMD1NN",
                    "type": "synonym"
                },
                {
                    "name": "CRAF",
                    "type": "synonym"
                },
                {
                    "name": "NS5",
                    "type": "synonym"
                },
                {
                    "name": "RAF1",
                    "type": "synonym"
                },
                {
                    "name": "RAF",
                    "type": "synonym"
                },
                {
                    "name": "Raf-1",
                    "type": "synonym"
                },
                {
                    "name": "c-Raf",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "615916",
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                },
                {
                    "id": "0110432",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0110432"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P11345-1",
            "uniprot_ac": "P11345",
            "uniprot_id": "RAF1_RAT",
            "refseq_ac": "NP_036771",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "RAF proto-oncogene serine/threonine-protein kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
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                    "name": "C-RAF",
                    "type": "synonym"
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                {
                    "name": "Proto-oncogene c-RAF",
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                {
                    "name": "RAF proto-oncogene serine/threonine-protein kinase",
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                },
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                    "name": "Raf-1",
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                    "name": "cRaf",
                    "type": "synonym"
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                    "name": "murine leukemia viral (v-raf-1) oncogene homolog 1 (3611-MSV)",
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                    "name": "proto-oncogene c-RAF",
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                    "name": "v-raf-1 murine leukemia viral oncogene homolog 1",
                    "type": "synonym"
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                    "name": "v-raf-leukemia viral oncogene 1",
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            ],
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                {
                    "name": "Raf1",
                    "type": "recommended"
                },
                {
                    "name": "Raf1",
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                },
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                    "name": "Raf",
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                    "id": "0110432",
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            "uniprot_canonical_ac": "P11346-1",
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            "refseq_ac": "NP_001096867",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Raf homolog serine/threonine-protein kinase Raf",
                    "type": "recommended"
                },
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                    "name": "2.7.11.1",
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                {
                    "name": "CG2845-PE",
                    "type": "synonym"
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                {
                    "name": "D-Raf",
                    "type": "synonym"
                },
                {
                    "name": "Protein pole-hole",
                    "type": "synonym"
                },
                {
                    "name": "Raf oncogene, isoform E",
                    "type": "synonym"
                },
                {
                    "name": "Raf-PE",
                    "type": "synonym"
                },
                {
                    "name": "dRAF-1",
                    "type": "synonym"
                },
                {
                    "name": "l(1)pole hole",
                    "type": "synonym"
                },
                {
                    "name": "pole-hole",
                    "type": "synonym"
                },
                {
                    "name": "polehole",
                    "type": "synonym"
                },
                {
                    "name": "raf-like-oncogene-1",
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                }
            ],
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                {
                    "name": "Raf",
                    "type": "recommended"
                },
                {
                    "name": "11-29",
                    "type": "synonym"
                },
                {
                    "name": "C110",
                    "type": "synonym"
                },
                {
                    "name": "CG2845",
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                {
                    "name": "D-RAF",
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                {
                    "name": "D-Raf",
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                    "name": "D-raf1",
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                {
                    "name": "D-raf",
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                },
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                    "name": "DRaf1",
                    "type": "synonym"
                },
                {
                    "name": "DRaf",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG2845",
                    "type": "synonym"
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                    "name": "Draf-1",
                    "type": "synonym"
                },
                {
                    "name": "Draf1",
                    "type": "synonym"
                },
                {
                    "name": "Draf",
                    "type": "synonym"
                },
                {
                    "name": "EG:BACH48C10.3",
                    "type": "synonym"
                },
                {
                    "name": "Phl",
                    "type": "synonym"
                },
                {
                    "name": "RAF",
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                },
                {
                    "name": "Raf/phl",
                    "type": "synonym"
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                    "name": "Raf1",
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                },
                {
                    "name": "Raf",
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                    "name": "dRaf",
                    "type": "synonym"
                },
                {
                    "name": "draf",
                    "type": "synonym"
                },
                {
                    "name": "l(1)2Fe",
                    "type": "synonym"
                },
                {
                    "name": "l(1)G0475",
                    "type": "synonym"
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                {
                    "name": "l(1)phl",
                    "type": "synonym"
                },
                {
                    "name": "l(1)ph",
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                },
                {
                    "name": "l(1)pole hole",
                    "type": "synonym"
                },
                {
                    "name": "l(1)polehole/draf",
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                },
                {
                    "name": "l(1)polehole",
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                },
                {
                    "name": "l(1)raf",
                    "type": "synonym"
                },
                {
                    "name": "lincRNA.937",
                    "type": "synonym"
                },
                {
                    "name": "ph1",
                    "type": "synonym"
                },
                {
                    "name": "phl",
                    "type": "synonym"
                },
                {
                    "name": "ph",
                    "type": "synonym"
                },
                {
                    "name": "raf-1",
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                },
                {
                    "name": "raf1",
                    "type": "synonym"
                },
                {
                    "name": "rafl",
                    "type": "synonym"
                },
                {
                    "name": "raf",
                    "type": "synonym"
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            ],
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                    "id": "0110432",
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            "uniprot_canonical_ac": "P00488-1",
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                    "name": "Homo sapiens",
                    "taxid": 9606,
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                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Coagulation factor XIII A chain",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.13",
                    "type": "synonym"
                },
                {
                    "name": "Coagulation factor XIIIa",
                    "type": "synonym"
                },
                {
                    "name": "FSF, A subunit",
                    "type": "synonym"
                },
                {
                    "name": "Protein-glutamine gamma-glutamyltransferase A chain",
                    "type": "synonym"
                },
                {
                    "name": "TGase",
                    "type": "synonym"
                },
                {
                    "name": "Transglutaminase A chain",
                    "type": "synonym"
                },
                {
                    "name": "bA525O21.1 (coagulation factor XIII, A1 polypeptide)",
                    "type": "synonym"
                },
                {
                    "name": "coagulation factor XIII A chain",
                    "type": "synonym"
                },
                {
                    "name": "coagulation factor XIII, A polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "coagulation factor XIIIa",
                    "type": "synonym"
                },
                {
                    "name": "factor XIIIa",
                    "type": "synonym"
                },
                {
                    "name": "fibrin stabilizing factor, A subunit",
                    "type": "synonym"
                },
                {
                    "name": "fibrinoligase",
                    "type": "synonym"
                },
                {
                    "name": "protein-glutamine gamma-glutamyltransferase A chain",
                    "type": "synonym"
                },
                {
                    "name": "transglutaminase A chain",
                    "type": "synonym"
                },
                {
                    "name": "transglutaminase. plasma",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "F13A1",
                    "type": "recommended"
                },
                {
                    "name": "F13A1",
                    "type": "synonym"
                },
                {
                    "name": "F13A",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0110432",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110432"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110432"
}
