{
    "disease_id": "DOID:0070250",
    "recommended_name": {
        "id": "DOID:0070250",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070250",
        "name": "autosomal dominant Emery-Dreifuss muscular dystrophy 5",
        "description": "An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the SYNE2 gene on chromosome 14q23.2."
    },
    "synonyms": [
        {
            "id": "DOID:0070250",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070250",
            "name": "EDMD5",
            "description": ""
        },
        {
            "id": "DOID:0070250",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070250",
            "name": "Emery-Dreifuss muscular dystrophy 5, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0013072",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013072",
            "name": "Emery-Dreifuss muscular dystrophy 5, autosomal dominant",
            "description": "Any autosomal dominant Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the SYNE2 gene."
        },
        {
            "id": "MONDO:0013072",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013072",
            "name": "Emery-Dreifuss muscular dystrophy 5, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0013072",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013072",
            "name": "SYNE2 autosomal dominant Emery-Dreifuss muscular dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0013072",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013072",
            "name": "autosomal dominant Emery-Dreifuss muscular dystrophy caused by mutation in SYNE2",
            "description": ""
        },
        {
            "id": "MONDO:0013072",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013072",
            "name": "EDMD5",
            "description": ""
        },
        {
            "id": "MIM:612999",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/612999",
            "name": "Emery-Dreifuss muscular dystrophy 5, autosomal dominant",
            "description": "Emery-Dreifuss muscular dystrophy 5, autosomal dominant"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070250"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070250",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070250",
            "categories": []
        },
        {
            "id": "MONDO:0013072",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013072",
            "categories": []
        },
        {
            "id": "MIM:612999",
            "database": "MIM",
            "url": "https://www.omim.org/entry/612999",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AB32T5Q1-1",
            "uniprot_ac": "A0AB32T5Q1",
            "uniprot_id": "A0AB32T5Q1_DANRE",
            "refseq_ac": "XP_068069186",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Uncharacterized protein syne2b isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein syne2b isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "syne2b",
                    "type": "recommended"
                },
                {
                    "name": "syne2b",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB32T5Q1-1",
            "evidence": [
                {
                    "id": "0070250",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070250"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0AB32TCB4-1",
            "uniprot_ac": "A0AB32TCB4",
            "uniprot_id": "A0AB32TCB4_DANRE",
            "refseq_ac": "XP_068071580",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nesprin-2a isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "nesprin-2a isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "syne2a",
                    "type": "recommended"
                },
                {
                    "name": "si:ch211-207i1.1",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-207i1.2",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-274c14.2",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-274c14.3",
                    "type": "synonym"
                },
                {
                    "name": "syne2a",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB32TCB4-1",
            "evidence": [
                {
                    "id": "0070250",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070250"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6ZWQ0-1",
            "uniprot_ac": "Q6ZWQ0",
            "uniprot_id": "SYNE2_MOUSE",
            "refseq_ac": "NP_001005510",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nesprin-2",
                    "type": "recommended"
                },
                {
                    "name": "KASH domain-containing protein 2",
                    "type": "synonym"
                },
                {
                    "name": "KASH2",
                    "type": "synonym"
                },
                {
                    "name": "Nuclear envelope spectrin repeat protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Nucleus and actin connecting element protein",
                    "type": "synonym"
                },
                {
                    "name": "Protein NUANCE",
                    "type": "synonym"
                },
                {
                    "name": "Synaptic nuclear envelope protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Syne-2",
                    "type": "synonym"
                },
                {
                    "name": "diminished cone electroretinogram",
                    "type": "synonym"
                },
                {
                    "name": "nesprin 2",
                    "type": "synonym"
                },
                {
                    "name": "nesprin-2",
                    "type": "synonym"
                },
                {
                    "name": "nuance",
                    "type": "synonym"
                },
                {
                    "name": "nuclear envelope spectrin repeat protein 2",
                    "type": "synonym"
                },
                {
                    "name": "nucleus and actin connecting element protein",
                    "type": "synonym"
                },
                {
                    "name": "synaptic nuclear envelope 2",
                    "type": "synonym"
                },
                {
                    "name": "synaptic nuclear envelope protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Syne2",
                    "type": "recommended"
                },
                {
                    "name": "6820443O06Rik",
                    "type": "synonym"
                },
                {
                    "name": "Cpfl8",
                    "type": "synonym"
                },
                {
                    "name": "D12Ertd777e",
                    "type": "synonym"
                },
                {
                    "name": "KASH2",
                    "type": "synonym"
                },
                {
                    "name": "NUA",
                    "type": "synonym"
                },
                {
                    "name": "Nesp2g",
                    "type": "synonym"
                },
                {
                    "name": "Syne2",
                    "type": "synonym"
                },
                {
                    "name": "dice",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA1011",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6ZWQ0-1",
            "evidence": [
                {
                    "id": "0070250",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070250"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8WXH0-1",
            "uniprot_ac": "Q8WXH0",
            "uniprot_id": "SYNE2_HUMAN",
            "refseq_ac": "NP_055995",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nesprin-2",
                    "type": "recommended"
                },
                {
                    "name": "KASH domain-containing protein 2",
                    "type": "synonym"
                },
                {
                    "name": "KASH2",
                    "type": "synonym"
                },
                {
                    "name": "Nuclear envelope spectrin repeat protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Nucleus and actin connecting element protein",
                    "type": "synonym"
                },
                {
                    "name": "Protein NUANCE",
                    "type": "synonym"
                },
                {
                    "name": "Synaptic nuclear envelope protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Syne-2",
                    "type": "synonym"
                },
                {
                    "name": "nesprin 2",
                    "type": "synonym"
                },
                {
                    "name": "nesprin-2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "nesprin-2 spectrin repeats 3-54",
                    "type": "synonym"
                },
                {
                    "name": "nuclear envelope spectrin repeat protein 2",
                    "type": "synonym"
                },
                {
                    "name": "nucleus and actin connecting element protein",
                    "type": "synonym"
                },
                {
                    "name": "polytrophin",
                    "type": "synonym"
                },
                {
                    "name": "spectrin repeat containing, nuclear envelope 2",
                    "type": "synonym"
                },
                {
                    "name": "synaptic nuclear envelope protein 2",
                    "type": "synonym"
                },
                {
                    "name": "synaptic nuclei expressed gene 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SYNE2",
                    "type": "recommended"
                },
                {
                    "name": "EDMD5",
                    "type": "synonym"
                },
                {
                    "name": "KASH2",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1011",
                    "type": "synonym"
                },
                {
                    "name": "NUANCE",
                    "type": "synonym"
                },
                {
                    "name": "NUA",
                    "type": "synonym"
                },
                {
                    "name": "Nesp2",
                    "type": "synonym"
                },
                {
                    "name": "Nesprin-2",
                    "type": "synonym"
                },
                {
                    "name": "SYNE-2",
                    "type": "synonym"
                },
                {
                    "name": "SYNE2",
                    "type": "synonym"
                },
                {
                    "name": "TROPH",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8WXH0-1",
            "evidence": [
                {
                    "id": "612999",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/612999"
                },
                {
                    "id": "0070250",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070250"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I5ZNW6-1",
            "uniprot_ac": "A0A8I5ZNW6",
            "uniprot_id": "A0A8I5ZNW6_RAT",
            "refseq_ac": "XP_038969191",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nesprin-2",
                    "type": "recommended"
                },
                {
                    "name": "KASH domain-containing protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Nuclear envelope spectrin repeat protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Nucleus and actin connecting element protein",
                    "type": "synonym"
                },
                {
                    "name": "Synaptic nuclear envelope protein 2",
                    "type": "synonym"
                },
                {
                    "name": "nesprin-2 isoform X5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Syne2",
                    "type": "recommended"
                },
                {
                    "name": "AABR07064873.1",
                    "type": "synonym"
                },
                {
                    "name": "RGD1305248",
                    "type": "synonym"
                },
                {
                    "name": "Syne2",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I5ZNW6-1",
            "evidence": [
                {
                    "id": "0070250",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070250"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070250"
}