{
    "disease_id": "DOID:0050759",
    "recommended_name": {
        "id": "DOID:0050759",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050759",
        "name": "myotonic dystrophy type 2",
        "description": "A myotonic disease that is characterized by myotonia and progressive, proximal muscle wasting and weakness affecting the skeletal and smooth muscles of the neck, shoulders, elbows and hips and has_material_basis_in the autosomal dominant inheritance of the CNBP (ZNF9) gene containing an expansion of a CCTG repeat in intron one."
    },
    "synonyms": [
        {
            "id": "MONDO:0011266",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011266",
            "name": "myotonic dystrophy type 2",
            "description": "Myotonic dystrophy type 2 (MD2), also known as proximal myotonic myopathy, is a very rare genetic multi-system disorder of late childhood or adult-onset characterized by mild myotonia, muscle weakness, and rarely cardiac conduction disorders."
        },
        {
            "id": "MONDO:0011266",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011266",
            "name": "CNBP myotonic dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0011266",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011266",
            "name": "myotonic dystrophy caused by mutation in CNBP",
            "description": ""
        },
        {
            "id": "MONDO:0011266",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011266",
            "name": "myotonic dystrophy type 2",
            "description": ""
        },
        {
            "id": "MONDO:0011266",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011266",
            "name": "proximal myotonic dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0011266",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011266",
            "name": "proximal myotonic myopathy",
            "description": ""
        },
        {
            "id": "MONDO:0011266",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011266",
            "name": "ricker disease",
            "description": ""
        },
        {
            "id": "MONDO:0011266",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011266",
            "name": "ricker syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011266",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011266",
            "name": "DM2",
            "description": ""
        },
        {
            "id": "MONDO:0011266",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011266",
            "name": "PROMM",
            "description": ""
        },
        {
            "id": "MONDO:0011266",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011266",
            "name": "dystrophia myotonica type 2",
            "description": ""
        },
        {
            "id": "MONDO:0011266",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011266",
            "name": "myotonic dystrophy 2",
            "description": ""
        },
        {
            "id": "MIM:602668",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/602668",
            "name": "Dystrophia myotonica 2",
            "description": "Dystrophia myotonica 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050759"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050759",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050759",
            "categories": []
        },
        {
            "id": "MONDO:0011266",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011266",
            "categories": []
        },
        {
            "id": "MIM:602668",
            "database": "MIM",
            "url": "https://www.omim.org/entry/602668",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1Q6Z5-1",
            "uniprot_ac": "F1Q6Z5",
            "uniprot_id": "F1Q6Z5_DANRE",
            "refseq_ac": "NP_001231665",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "CCHC-type zinc finger, nucleic acid binding protein a",
                    "type": "synonym"
                },
                {
                    "name": "CNBP",
                    "type": "synonym"
                },
                {
                    "name": "cellular nucleic acid binding protein",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein 9",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cnbpa",
                    "type": "recommended"
                },
                {
                    "name": "cnbpa",
                    "type": "synonym"
                },
                {
                    "name": "fe36b09",
                    "type": "synonym"
                },
                {
                    "name": "wu:fe36b09",
                    "type": "synonym"
                },
                {
                    "name": "zCNBP",
                    "type": "synonym"
                },
                {
                    "name": "zff9",
                    "type": "synonym"
                },
                {
                    "name": "zgc:63625",
                    "type": "synonym"
                }
            ],
            "record_id": "F1Q6Z5-1",
            "evidence": [
                {
                    "id": "0050759",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050759"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "E7FCQ0-1",
            "uniprot_ac": "E7FCQ0",
            "uniprot_id": "E7FCQ0_DANRE",
            "refseq_ac": "NP_001313334",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "CCHC-type zinc finger, nucleic acid binding protein b",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein 9",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cnbpb",
                    "type": "recommended"
                },
                {
                    "name": "cnbpb",
                    "type": "synonym"
                },
                {
                    "name": "cnbp",
                    "type": "synonym"
                },
                {
                    "name": "wu:fj34c03",
                    "type": "synonym"
                }
            ],
            "record_id": "E7FCQ0-1",
            "evidence": [
                {
                    "id": "0050759",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050759"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M3AGP9-1",
            "uniprot_ac": "A0A8M3AGP9",
            "uniprot_id": "A0A8M3AGP9_DANRE",
            "refseq_ac": "XP_009289402",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Muscleblind-like protein 3 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "muscleblind-like protein 3 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mbnl3",
                    "type": "recommended"
                },
                {
                    "name": "mbnl3a",
                    "type": "synonym"
                },
                {
                    "name": "mbnl3b",
                    "type": "synonym"
                },
                {
                    "name": "mbnl3c",
                    "type": "synonym"
                },
                {
                    "name": "mbnl3",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M3AGP9-1",
            "evidence": [
                {
                    "id": "0050759",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050759"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M1NE31-1",
            "uniprot_ac": "A0A8M1NE31",
            "uniprot_id": "A0A8M1NE31_DANRE",
            "refseq_ac": "NP_001093520",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Muscleblind-like protein 1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "muscleblind-like protein 1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "muscleblind-like protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mbnl1",
                    "type": "recommended"
                },
                {
                    "name": "mbnl1",
                    "type": "synonym"
                },
                {
                    "name": "zgc:153954",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1NE31-1",
            "evidence": [
                {
                    "id": "0050759",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050759"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M2BFL2-1",
            "uniprot_ac": "A0A8M2BFL2",
            "uniprot_id": "A0A8M2BFL2_DANRE",
            "refseq_ac": "NP_001428758",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Muscleblind-like protein 2 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "muscleblind-like 2",
                    "type": "synonym"
                },
                {
                    "name": "muscleblind-like protein 2 isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mbnl2",
                    "type": "recommended"
                },
                {
                    "name": "fj89c04",
                    "type": "synonym"
                },
                {
                    "name": "mbnl2",
                    "type": "synonym"
                },
                {
                    "name": "wu:fj89c04",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M2BFL2-1",
            "evidence": [
                {
                    "id": "0050759",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050759"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P53996-1",
            "uniprot_ac": "P53996",
            "uniprot_id": "CNBP_MOUSE",
            "refseq_ac": "NP_001103215",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "CCHC-type zinc finger nucleic acid binding protein",
                    "type": "recommended"
                },
                {
                    "name": "CCHC-type zinc finger nucleic acid binding protein isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "CCHC-type zinc finger nucleic acid binding protein",
                    "type": "synonym"
                },
                {
                    "name": "CNBP",
                    "type": "synonym"
                },
                {
                    "name": "Cellular nucleic acid-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "Zinc finger protein 9",
                    "type": "synonym"
                },
                {
                    "name": "cellular nucleic acid binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein 9",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cnbp",
                    "type": "recommended"
                },
                {
                    "name": "Cnbp1",
                    "type": "synonym"
                },
                {
                    "name": "Cnbp",
                    "type": "synonym"
                },
                {
                    "name": "Znf9",
                    "type": "synonym"
                }
            ],
            "record_id": "P53996-1",
            "evidence": [
                {
                    "id": "0050759",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050759"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8C181-1",
            "uniprot_ac": "Q8C181",
            "uniprot_id": "MBNL2_MOUSE",
            "refseq_ac": "NP_780550",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Muscleblind-like protein 2",
                    "type": "recommended"
                },
                {
                    "name": "muscleblind-like 2",
                    "type": "synonym"
                },
                {
                    "name": "muscleblind-like protein 2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "muscleblind-like protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mbnl2",
                    "type": "recommended"
                },
                {
                    "name": "1110002M11Rik",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa4072",
                    "type": "synonym"
                },
                {
                    "name": "MBLL",
                    "type": "synonym"
                },
                {
                    "name": "Mbnl2",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA4072",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8C181-1",
            "evidence": [
                {
                    "id": "0050759",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050759"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8R003-1",
            "uniprot_ac": "Q8R003",
            "uniprot_id": "MBNL3_MOUSE",
            "refseq_ac": "NP_598924",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Muscleblind-like protein 3",
                    "type": "recommended"
                },
                {
                    "name": "Cys3His CCG1-required protein",
                    "type": "synonym"
                },
                {
                    "name": "Muscleblind-like X-linked protein",
                    "type": "synonym"
                },
                {
                    "name": "Protein MCHCR",
                    "type": "synonym"
                },
                {
                    "name": "cys3His CCG1-required protein",
                    "type": "synonym"
                },
                {
                    "name": "muscleblind-like 3",
                    "type": "synonym"
                },
                {
                    "name": "muscleblind-like X-linked protein",
                    "type": "synonym"
                },
                {
                    "name": "muscleblind-like protein 3 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "muscleblind-like protein 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mbnl3",
                    "type": "recommended"
                },
                {
                    "name": "A530038J18Rik",
                    "type": "synonym"
                },
                {
                    "name": "CHCR",
                    "type": "synonym"
                },
                {
                    "name": "Chcr",
                    "type": "synonym"
                },
                {
                    "name": "E430034C16Rik",
                    "type": "synonym"
                },
                {
                    "name": "MBLX39",
                    "type": "synonym"
                },
                {
                    "name": "MBLX",
                    "type": "synonym"
                },
                {
                    "name": "MBXL",
                    "type": "synonym"
                },
                {
                    "name": "Mbnl3",
                    "type": "synonym"
                },
                {
                    "name": "Mbxl",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8R003-1",
            "evidence": [
                {
                    "id": "0050759",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050759"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9JKP5-1",
            "uniprot_ac": "Q9JKP5",
            "uniprot_id": "MBNL1_MOUSE",
            "refseq_ac": "NP_001240637",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Muscleblind-like protein 1",
                    "type": "recommended"
                },
                {
                    "name": "Triplet-expansion RNA-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "muscleblind like splicing factor 1",
                    "type": "synonym"
                },
                {
                    "name": "muscleblind-like 1",
                    "type": "synonym"
                },
                {
                    "name": "muscleblind-like protein 1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "muscleblind-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "triplet-expansion RNA-binding protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mbnl1",
                    "type": "recommended"
                },
                {
                    "name": "Exp",
                    "type": "synonym"
                },
                {
                    "name": "Mbnl1",
                    "type": "synonym"
                },
                {
                    "name": "Mbnl",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA0428",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9JKP5-1",
            "evidence": [
                {
                    "id": "0050759",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050759"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P62633-1",
            "uniprot_ac": "P62633",
            "uniprot_id": "CNBP_HUMAN",
            "refseq_ac": "NP_001120664",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "CCHC-type zinc finger nucleic acid binding protein",
                    "type": "recommended"
                },
                {
                    "name": "CCHC-type zinc finger nucleic acid binding protein isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "CNBP",
                    "type": "synonym"
                },
                {
                    "name": "Cellular nucleic acid-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "Zinc finger protein 9",
                    "type": "synonym"
                },
                {
                    "name": "cellular nucleic acid-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "erythroid differentiation-related",
                    "type": "synonym"
                },
                {
                    "name": "sterol regulatory element-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein 273",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein 9 (a cellular retroviral nucleic acid binding protein)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CNBP",
                    "type": "recommended"
                },
                {
                    "name": "CNBP1",
                    "type": "synonym"
                },
                {
                    "name": "CNBP",
                    "type": "synonym"
                },
                {
                    "name": "DM2",
                    "type": "synonym"
                },
                {
                    "name": "PROMM",
                    "type": "synonym"
                },
                {
                    "name": "RNF163",
                    "type": "synonym"
                },
                {
                    "name": "ZCCHC22",
                    "type": "synonym"
                },
                {
                    "name": "ZNF9",
                    "type": "synonym"
                }
            ],
            "record_id": "P62633-1",
            "evidence": [
                {
                    "id": "602668",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/602668"
                },
                {
                    "id": "0050759",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050759"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P53849-1",
            "uniprot_ac": "P53849",
            "uniprot_id": "GIS2_YEAST",
            "refseq_ac": "NP_014144",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Zinc finger protein GIS2",
                    "type": "recommended"
                },
                {
                    "name": "mRNA-binding translational activator GIS2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GIS2",
                    "type": "recommended"
                },
                {
                    "name": "GIS2",
                    "type": "synonym"
                },
                {
                    "name": "N0852",
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                {
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    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050759"
}