{
    "disease_id": "DOID:0110592",
    "recommended_name": {
        "id": "DOID:0110592",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110592",
        "name": "autosomal dominant nonsyndromic deafness 70",
        "description": "An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the MCM2 gene on chromosome 3q21."
    },
    "synonyms": [
        {
            "id": "DOID:0110592",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110592",
            "name": "DFNA70",
            "description": ""
        },
        {
            "id": "DOID:0110592",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110592",
            "name": "autosomal dominant deafness 70",
            "description": ""
        },
        {
            "id": "MONDO:0014853",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014853",
            "name": "autosomal dominant nonsyndromic hearing loss 70",
            "description": "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MCM2 gene."
        },
        {
            "id": "MONDO:0014853",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014853",
            "name": "autosomal dominant nonsyndromic hearing loss 70",
            "description": ""
        },
        {
            "id": "MONDO:0014853",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014853",
            "name": "DFNA70",
            "description": ""
        },
        {
            "id": "MONDO:0014853",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014853",
            "name": "MCM2 autosomal dominant nonsyndromic deafness",
            "description": ""
        },
        {
            "id": "MONDO:0014853",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014853",
            "name": "autosomal dominant deafness 70",
            "description": ""
        },
        {
            "id": "MONDO:0014853",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014853",
            "name": "autosomal dominant nonsyndromic deafness 70",
            "description": ""
        },
        {
            "id": "MONDO:0014853",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014853",
            "name": "autosomal dominant nonsyndromic deafness caused by mutation in MCM2",
            "description": ""
        },
        {
            "id": "MONDO:0014853",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014853",
            "name": "autosomal dominant nonsyndromic deafness type 70",
            "description": ""
        },
        {
            "id": "MONDO:0014853",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014853",
            "name": "deafness, autosomal dominant 70",
            "description": ""
        },
        {
            "id": "MONDO:0014853",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014853",
            "name": "deafness, autosomal dominant type 70",
            "description": ""
        },
        {
            "id": "MIM:616968",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616968",
            "name": "Deafness, autosomal dominant, 70",
            "description": "Deafness, autosomal dominant, 70"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110592"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110592",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110592",
            "categories": []
        },
        {
            "id": "MONDO:0014853",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014853",
            "categories": []
        },
        {
            "id": "MIM:616968",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616968",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A0R4IF65-1",
            "uniprot_ac": "A0A0R4IF65",
            "uniprot_id": "A0A0R4IF65_DANRE",
            "refseq_ac": "NP_775364",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA replication licensing factor MCM2",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.12",
                    "type": "synonym"
                },
                {
                    "name": "DNA replication licensing factor MCM2",
                    "type": "synonym"
                },
                {
                    "name": "DNA replication licensing factor mcm2",
                    "type": "synonym"
                },
                {
                    "name": "MCM2 minichromosome maintenance deficient 2, mitotin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mcm2",
                    "type": "recommended"
                },
                {
                    "name": "cb737",
                    "type": "synonym"
                },
                {
                    "name": "chunp6905",
                    "type": "synonym"
                },
                {
                    "name": "mcm2",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0R4IF65-1",
            "evidence": [
                {
                    "id": "0110592",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110592"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P97310-1",
            "uniprot_ac": "P97310",
            "uniprot_id": "MCM2_MOUSE",
            "refseq_ac": "NP_032590",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA replication licensing factor MCM2",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.12",
                    "type": "synonym"
                },
                {
                    "name": "DNA replication licensing factor MCM2",
                    "type": "synonym"
                },
                {
                    "name": "Minichromosome maintenance protein 2 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Nuclear protein BM28",
                    "type": "synonym"
                },
                {
                    "name": "mini chromosome maintenance deficient 2",
                    "type": "synonym"
                },
                {
                    "name": "minichromosome maintenance deficient 2 mitotin",
                    "type": "synonym"
                },
                {
                    "name": "minichromosome maintenance protein 2 homolog",
                    "type": "synonym"
                },
                {
                    "name": "nuclear protein BM28",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mcm2",
                    "type": "recommended"
                },
                {
                    "name": "BM28",
                    "type": "synonym"
                },
                {
                    "name": "Bm28",
                    "type": "synonym"
                },
                {
                    "name": "CDCL1",
                    "type": "synonym"
                },
                {
                    "name": "Cdcl1",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa0030",
                    "type": "synonym"
                },
                {
                    "name": "Mcm2",
                    "type": "synonym"
                },
                {
                    "name": "Mcmd2",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA0030",
                    "type": "synonym"
                }
            ],
            "record_id": "P97310-1",
            "evidence": [
                {
                    "id": "0110592",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110592"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P49736-1",
            "uniprot_ac": "P49736",
            "uniprot_id": "MCM2_HUMAN",
            "refseq_ac": "NP_004517",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA replication licensing factor MCM2",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.12",
                    "type": "synonym"
                },
                {
                    "name": "DNA replication licensing factor MCM2",
                    "type": "synonym"
                },
                {
                    "name": "Minichromosome maintenance protein 2 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Nuclear protein BM28",
                    "type": "synonym"
                },
                {
                    "name": "cell devision cycle-like 1",
                    "type": "synonym"
                },
                {
                    "name": "cyclin-like 1",
                    "type": "synonym"
                },
                {
                    "name": "minichromosome maintenance deficient 2 (mitotin)",
                    "type": "synonym"
                },
                {
                    "name": "minichromosome maintenance protein 2 homolog",
                    "type": "synonym"
                },
                {
                    "name": "nuclear protein BM28",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MCM2",
                    "type": "recommended"
                },
                {
                    "name": "BM28",
                    "type": "synonym"
                },
                {
                    "name": "CCNL1",
                    "type": "synonym"
                },
                {
                    "name": "CDCL1",
                    "type": "synonym"
                },
                {
                    "name": "D3S3194",
                    "type": "synonym"
                },
                {
                    "name": "DFNA70",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0030",
                    "type": "synonym"
                },
                {
                    "name": "MCM2",
                    "type": "synonym"
                },
                {
                    "name": "MITOTIN",
                    "type": "synonym"
                },
                {
                    "name": "cdc19",
                    "type": "synonym"
                }
            ],
            "record_id": "P49736-1",
            "evidence": [
                {
                    "id": "616968",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616968"
                },
                {
                    "id": "0110592",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110592"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P29469-1",
            "uniprot_ac": "P29469",
            "uniprot_id": "MCM2_YEAST",
            "refseq_ac": "NP_009530",
            "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": "DNA replication licensing factor MCM2",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.12",
                    "type": "synonym"
                },
                {
                    "name": "MCM DNA helicase complex subunit MCM2",
                    "type": "synonym"
                },
                {
                    "name": "Minichromosome maintenance protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MCM2",
                    "type": "recommended"
                },
                {
                    "name": "MCM2",
                    "type": "synonym"
                },
                {
                    "name": "YBL0438",
                    "type": "synonym"
                }
            ],
            "record_id": "P29469-1",
            "evidence": [
                {
                    "id": "0110592",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110592"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZP96-1",
            "uniprot_ac": "D3ZP96",
            "uniprot_id": "D3ZP96_RAT",
            "refseq_ac": "NP_001101343",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA replication licensing factor MCM2",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.12",
                    "type": "synonym"
                },
                {
                    "name": "DNA replication licensing factor MCM2",
                    "type": "synonym"
                },
                {
                    "name": "DNA replication licensing factor mcm2",
                    "type": "synonym"
                },
                {
                    "name": "Minichromosome maintenance protein 2 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Nuclear protein BM28",
                    "type": "synonym"
                },
                {
                    "name": "minichromosome maintenance deficient 2 mitotin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mcm2",
                    "type": "recommended"
                },
                {
                    "name": "Mcm2",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZP96-1",
            "evidence": [
                {
                    "id": "0110592",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110592"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P49735-1",
            "uniprot_ac": "P49735",
            "uniprot_id": "MCM2_DROME",
            "refseq_ac": "NP_477121",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA replication licensing factor Mcm2",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.12",
                    "type": "synonym"
                },
                {
                    "name": "CG7538-PA",
                    "type": "synonym"
                },
                {
                    "name": "DmMCM2",
                    "type": "synonym"
                },
                {
                    "name": "Mcm2-PA",
                    "type": "synonym"
                },
                {
                    "name": "Minichromosome maintenance 2 protein",
                    "type": "synonym"
                },
                {
                    "name": "minichromosome maintenance 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mcm2",
                    "type": "recommended"
                },
                {
                    "name": "CG7538",
                    "type": "synonym"
                },
                {
                    "name": "DmMCM2",
                    "type": "synonym"
                },
                {
                    "name": "DmMcm2",
                    "type": "synonym"
                },
                {
                    "name": "DmeMCM2",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7538",
                    "type": "synonym"
                },
                {
                    "name": "MCM2-7",
                    "type": "synonym"
                },
                {
                    "name": "MCM2_DROME",
                    "type": "synonym"
                },
                {
                    "name": "MCM2",
                    "type": "synonym"
                },
                {
                    "name": "McM2",
                    "type": "synonym"
                },
                {
                    "name": "Mcm2-7",
                    "type": "synonym"
                },
                {
                    "name": "Mcm2",
                    "type": "synonym"
                },
                {
                    "name": "PCR3",
                    "type": "synonym"
                },
                {
                    "name": "dMCM2",
                    "type": "synonym"
                },
                {
                    "name": "dMcm2",
                    "type": "synonym"
                },
                {
                    "name": "l(3)rL074",
                    "type": "synonym"
                },
                {
                    "name": "mcm2-7",
                    "type": "synonym"
                },
                {
                    "name": "mcm2",
                    "type": "synonym"
                }
            ],
            "record_id": "P49735-1",
            "evidence": [
                {
                    "id": "0110592",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110592"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110592"
}