{
    "disease_id": "DOID:0070246",
    "recommended_name": {
        "id": "DOID:0070246",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070246",
        "name": "X-linked Emery-Dreifuss muscular dystrophy 1",
        "description": "An Emery-Dreifuss muscular dystrophy that has_material_basis_in an X-linked recessive mutation of EMD on chromosome Xq28."
    },
    "synonyms": [
        {
            "id": "DOID:0070246",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070246",
            "name": "EDMD1",
            "description": ""
        },
        {
            "id": "DOID:0070246",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070246",
            "name": "EMD1",
            "description": ""
        },
        {
            "id": "DOID:0070246",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070246",
            "name": "Emery-Dreifuss muscular dystrophy 1, X-linked",
            "description": ""
        },
        {
            "id": "DOID:0070246",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070246",
            "name": "humeroperoneal neuromuscular disease",
            "description": ""
        },
        {
            "id": "DOID:0070246",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070246",
            "name": "scapuloperoneal syndrome, X-linked",
            "description": ""
        },
        {
            "id": "DOID:0070246",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070246",
            "name": "muscular dystrophy, tardive, Dreifuss-Emery type, with contractures",
            "description": ""
        },
        {
            "id": "MONDO:0100531",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100531",
            "name": "Emery-Dreifuss muscular dystrophy 1, X-linked",
            "description": ""
        },
        {
            "id": "MONDO:0100531",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100531",
            "name": "EDMD1",
            "description": ""
        },
        {
            "id": "MONDO:0100531",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100531",
            "name": "EMD1",
            "description": ""
        },
        {
            "id": "MONDO:0100531",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100531",
            "name": "Emery-Dreifuss muscular dystrophy 1, X-linked",
            "description": ""
        },
        {
            "id": "MONDO:0100531",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100531",
            "name": "Humeroperoneal neuromuscular disease",
            "description": ""
        },
        {
            "id": "MIM:310300",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/310300",
            "name": "Emery-Dreifuss muscular dystrophy 1, X-linked",
            "description": "Emery-Dreifuss muscular dystrophy 1, X-linked"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070246"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070246",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070246",
            "categories": []
        },
        {
            "id": "MONDO:0100531",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100531",
            "categories": []
        },
        {
            "id": "MIM:310300",
            "database": "MIM",
            "url": "https://www.omim.org/entry/310300",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E9QIK0-1",
            "uniprot_ac": "E9QIK0",
            "uniprot_id": "E9QIK0_DANRE",
            "refseq_ac": "NP_001373412",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Emerin (Emery-Dreifuss muscular dystrophy) isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "emerin (Emery-Dreifuss muscular dystrophy) isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "emerin (Emery-Dreifuss muscular dystrophy)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "emd",
                    "type": "recommended"
                },
                {
                    "name": "emd",
                    "type": "synonym"
                }
            ],
            "record_id": "E9QIK0-1",
            "evidence": [
                {
                    "id": "0070246",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070246"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O08579-1",
            "uniprot_ac": "O08579",
            "uniprot_id": "EMD_MOUSE",
            "refseq_ac": "NP_031953",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Emerin",
                    "type": "recommended"
                },
                {
                    "name": "emerin isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Emd",
                    "type": "recommended"
                },
                {
                    "name": "Emd",
                    "type": "synonym"
                },
                {
                    "name": "Sta",
                    "type": "synonym"
                }
            ],
            "record_id": "O08579-1",
            "evidence": [
                {
                    "id": "0070246",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070246"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P50402-1",
            "uniprot_ac": "P50402",
            "uniprot_id": "EMD_HUMAN",
            "refseq_ac": "NP_000108",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Emerin",
                    "type": "recommended"
                },
                {
                    "name": "LEM domain containing 5",
                    "type": "synonym"
                },
                {
                    "name": "emerin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "EMD",
                    "type": "recommended"
                },
                {
                    "name": "CMD3C",
                    "type": "synonym"
                },
                {
                    "name": "EDMD",
                    "type": "synonym"
                },
                {
                    "name": "EMD",
                    "type": "synonym"
                },
                {
                    "name": "LEMD5",
                    "type": "synonym"
                },
                {
                    "name": "STA",
                    "type": "synonym"
                }
            ],
            "record_id": "P50402-1",
            "evidence": [
                {
                    "id": "310300",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/310300"
                },
                {
                    "id": "0070246",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070246"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q63190-1",
            "uniprot_ac": "Q63190",
            "uniprot_id": "EMD_RAT",
            "refseq_ac": "NP_037080",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Emerin",
                    "type": "recommended"
                },
                {
                    "name": "emerin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Emd",
                    "type": "recommended"
                },
                {
                    "name": "Emd",
                    "type": "synonym"
                }
            ],
            "record_id": "Q63190-1",
            "evidence": [
                {
                    "id": "0070246",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070246"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9R0W1-1",
            "uniprot_ac": "Q9R0W1",
            "uniprot_id": "PITX2_RAT",
            "refseq_ac": "NP_001035970",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Pituitary homeobox 2",
                    "type": "recommended"
                },
                {
                    "name": "Homeobox protein PITX2",
                    "type": "synonym"
                },
                {
                    "name": "Paired-like homeodomain transcription factor 2",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein PITX2",
                    "type": "synonym"
                },
                {
                    "name": "paired-like homeodomain transcription factor 2",
                    "type": "synonym"
                },
                {
                    "name": "pituitary homeobox 2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "pituitary homeobox 2",
                    "type": "synonym"
                },
                {
                    "name": "rPtx2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pitx2",
                    "type": "recommended"
                },
                {
                    "name": "Pitx-2",
                    "type": "synonym"
                },
                {
                    "name": "Pitx2c",
                    "type": "synonym"
                },
                {
                    "name": "Pitx2",
                    "type": "synonym"
                },
                {
                    "name": "Ptx2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9R0W1-1",
            "evidence": [
                {
                    "id": "0070246",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070246"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q13616-1",
            "uniprot_ac": "Q13616",
            "uniprot_id": "CUL1_HUMAN",
            "refseq_ac": "NP_003583",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cullin-1",
                    "type": "recommended"
                },
                {
                    "name": "CUL-1",
                    "type": "synonym"
                },
                {
                    "name": "cullin-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CUL1",
                    "type": "recommended"
                },
                {
                    "name": "CUL1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q13616-1",
            "evidence": [
                {
                    "id": "0070246",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070246"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070246"
}