{
    "disease_id": "DOID:0070252",
    "recommended_name": {
        "id": "DOID:0070252",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070252",
        "name": "autosomal dominant Emery-Dreifuss muscular dystrophy 7",
        "description": "An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the TMEM43 gene on chromosome 3p25.1."
    },
    "synonyms": [
        {
            "id": "DOID:0070252",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070252",
            "name": "EDMD7",
            "description": ""
        },
        {
            "id": "DOID:0070252",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070252",
            "name": "Emery-Dreifuss muscular dystrophy 7, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0013677",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013677",
            "name": "Emery-Dreifuss muscular dystrophy 7, autosomal dominant",
            "description": "Any autosomal dominant Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the TMEM43 gene."
        },
        {
            "id": "MONDO:0013677",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013677",
            "name": "Emery-Dreifuss muscular dystrophy 7, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0013677",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013677",
            "name": "TMEM43 autosomal dominant Emery-Dreifuss muscular dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0013677",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013677",
            "name": "autosomal dominant Emery-Dreifuss muscular dystrophy caused by mutation in TMEM43",
            "description": ""
        },
        {
            "id": "MONDO:0013677",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013677",
            "name": "EDMD7",
            "description": ""
        },
        {
            "id": "MIM:614302",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614302",
            "name": "Emery-Dreifuss muscular dystrophy 7, autosomal dominant",
            "description": "Emery-Dreifuss muscular dystrophy 7, autosomal dominant"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070252"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070252",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070252",
            "categories": []
        },
        {
            "id": "MONDO:0013677",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013677",
            "categories": []
        },
        {
            "id": "MIM:614302",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614302",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9DBS1-1",
            "uniprot_ac": "Q9DBS1",
            "uniprot_id": "TMM43_MOUSE",
            "refseq_ac": "NP_083042",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transmembrane protein 43",
                    "type": "recommended"
                },
                {
                    "name": "Protein LUMA",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane protein 43",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tmem43",
                    "type": "recommended"
                },
                {
                    "name": "1200015A22Rik",
                    "type": "synonym"
                },
                {
                    "name": "LUMA",
                    "type": "synonym"
                },
                {
                    "name": "Tmem43",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9DBS1-1",
            "evidence": [
                {
                    "id": "0070252",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070252"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9BTV4-1",
            "uniprot_ac": "Q9BTV4",
            "uniprot_id": "TMM43_HUMAN",
            "refseq_ac": "NP_077310",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transmembrane protein 43",
                    "type": "recommended"
                },
                {
                    "name": "Protein LUMA",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane protein 43 isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TMEM43",
                    "type": "recommended"
                },
                {
                    "name": "ARVC5",
                    "type": "synonym"
                },
                {
                    "name": "ARVD5",
                    "type": "synonym"
                },
                {
                    "name": "AUNA2",
                    "type": "synonym"
                },
                {
                    "name": "AUNA3",
                    "type": "synonym"
                },
                {
                    "name": "EDMD7",
                    "type": "synonym"
                },
                {
                    "name": "LUMA",
                    "type": "synonym"
                },
                {
                    "name": "PRO6244",
                    "type": "synonym"
                },
                {
                    "name": "TMEM43",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9BTV4-1",
            "evidence": [
                {
                    "id": "614302",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614302"
                },
                {
                    "id": "0070252",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070252"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5XIP9-1",
            "uniprot_ac": "Q5XIP9",
            "uniprot_id": "TMM43_RAT",
            "refseq_ac": "NP_001007746",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transmembrane protein 43",
                    "type": "recommended"
                },
                {
                    "name": "Protein LUMA",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane protein 43",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tmem43",
                    "type": "recommended"
                },
                {
                    "name": "Tmem43",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5XIP9-1",
            "evidence": [
                {
                    "id": "0070252",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070252"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VSB9-1",
            "uniprot_ac": "Q9VSB9",
            "uniprot_id": "TMM43_DROME",
            "refseq_ac": "NP_648162",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transmembrane protein 43 homolog",
                    "type": "recommended"
                },
                {
                    "name": "CG8111-PA",
                    "type": "synonym"
                },
                {
                    "name": "Tmem43-PA",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane protein 43",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tmem43",
                    "type": "recommended"
                },
                {
                    "name": "CG8111",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8111",
                    "type": "synonym"
                },
                {
                    "name": "Tmem43",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VSB9-1",
            "evidence": [
                {
                    "id": "0070252",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070252"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070252"
}