{
    "disease_id": "DOID:0110515",
    "recommended_name": {
        "id": "DOID:0110515",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110515",
        "name": "autosomal recessive nonsyndromic deafness 63",
        "description": "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the LRTOMT gene on chromosome 11q13."
    },
    "synonyms": [
        {
            "id": "DOID:0110515",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110515",
            "name": "DFNB63",
            "description": ""
        },
        {
            "id": "DOID:0110515",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110515",
            "name": "autosomal recessive deafness 63",
            "description": ""
        },
        {
            "id": "MONDO:0012670",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012670",
            "name": "autosomal recessive nonsyndromic hearing loss 63",
            "description": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the LRTOMT gene."
        },
        {
            "id": "MONDO:0012670",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012670",
            "name": "autosomal recessive nonsyndromic hearing loss 63",
            "description": ""
        },
        {
            "id": "MONDO:0012670",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012670",
            "name": "DFNB63",
            "description": ""
        },
        {
            "id": "MONDO:0012670",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012670",
            "name": "LRTOMT autosomal recessive nonsyndromic deafness",
            "description": ""
        },
        {
            "id": "MONDO:0012670",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012670",
            "name": "autosomal recessive deafness 63",
            "description": ""
        },
        {
            "id": "MONDO:0012670",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012670",
            "name": "autosomal recessive nonsyndromic deafness 63",
            "description": ""
        },
        {
            "id": "MONDO:0012670",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012670",
            "name": "autosomal recessive nonsyndromic deafness caused by mutation in LRTOMT",
            "description": ""
        },
        {
            "id": "MONDO:0012670",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012670",
            "name": "autosomal recessive nonsyndromic deafness type 63",
            "description": ""
        },
        {
            "id": "MONDO:0012670",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012670",
            "name": "deafness, autosomal recessive 63",
            "description": ""
        },
        {
            "id": "MONDO:0012670",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012670",
            "name": "deafness, autosomal recessive type 63",
            "description": ""
        },
        {
            "id": "MIM:611451",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/611451",
            "name": "Deafness, autosomal recessive, 63",
            "description": "Deafness, autosomal recessive, 63"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110515"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110515",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110515",
            "categories": []
        },
        {
            "id": "MONDO:0012670",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012670",
            "categories": []
        },
        {
            "id": "MIM:611451",
            "database": "MIM",
            "url": "https://www.omim.org/entry/611451",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A193KX02-1",
            "uniprot_ac": "A0A193KX02",
            "uniprot_id": "TOMT_DANRE",
            "refseq_ac": "NP_001411114",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transmembrane O-methyltransferase homolog",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.6",
                    "type": "synonym"
                },
                {
                    "name": "Protein mercury",
                    "type": "synonym"
                },
                {
                    "name": "protein mercury",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane O-methyltransferase homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tomt",
                    "type": "recommended"
                },
                {
                    "name": "mercury",
                    "type": "synonym"
                },
                {
                    "name": "mrc",
                    "type": "synonym"
                },
                {
                    "name": "tomt",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A193KX02-1",
            "evidence": [
                {
                    "id": "0110515",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110515"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A1Y9I9-1",
            "uniprot_ac": "A1Y9I9",
            "uniprot_id": "TOMT_MOUSE",
            "refseq_ac": "NP_001075148",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transmembrane O-methyltransferase homolog",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.6",
                    "type": "synonym"
                },
                {
                    "name": "Catechol O-methyltransferase 2",
                    "type": "synonym"
                },
                {
                    "name": "catechol O-methyltransferase 2",
                    "type": "synonym"
                },
                {
                    "name": "mTOMT",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane O-methyltransferase homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tomt",
                    "type": "recommended"
                },
                {
                    "name": "Comt2",
                    "type": "synonym"
                },
                {
                    "name": "F930017I19Rik",
                    "type": "synonym"
                },
                {
                    "name": "Tomt",
                    "type": "synonym"
                }
            ],
            "record_id": "A1Y9I9-1",
            "evidence": [
                {
                    "id": "0110515",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110515"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9DAK8-1",
            "uniprot_ac": "Q9DAK8",
            "uniprot_id": "LRC51_MOUSE",
            "refseq_ac": "NP_001156446",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Leucine-rich repeat-containing protein 51",
                    "type": "recommended"
                },
                {
                    "name": "leucine-rich repeat-containing protein 51 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "leucine-rich repeat-containing protein 51",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lrrc51",
                    "type": "recommended"
                },
                {
                    "name": "1700008D07Rik",
                    "type": "synonym"
                },
                {
                    "name": "Lrrc51",
                    "type": "synonym"
                },
                {
                    "name": "Lrtomt",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9DAK8-1",
            "evidence": [
                {
                    "id": "0110515",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110515"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8WZ04-1",
            "uniprot_ac": "Q8WZ04",
            "uniprot_id": "TOMT_HUMAN",
            "refseq_ac": "NP_001138780",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transmembrane O-methyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.6",
                    "type": "synonym"
                },
                {
                    "name": "Catechol O-methyltransferase 2",
                    "type": "synonym"
                },
                {
                    "name": "Protein LRTOMT2",
                    "type": "synonym"
                },
                {
                    "name": "leucine rich transmembrane and 0-methyltransferase domain containing",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane O-methyltransferase isoform LRTOMT2a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TOMT",
                    "type": "recommended"
                },
                {
                    "name": "CFAP111",
                    "type": "synonym"
                },
                {
                    "name": "COMT2",
                    "type": "synonym"
                },
                {
                    "name": "DFNB63",
                    "type": "synonym"
                },
                {
                    "name": "LRRC51-TOMT",
                    "type": "synonym"
                },
                {
                    "name": "LRRC51",
                    "type": "synonym"
                },
                {
                    "name": "LRTOMT",
                    "type": "synonym"
                },
                {
                    "name": "PP7517",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8WZ04-1",
            "evidence": [
                {
                    "id": "611451",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/611451"
                },
                {
                    "id": "0110515",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110515"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "B6CZ62-1",
            "uniprot_ac": "B6CZ62",
            "uniprot_id": "TOMT_RAT",
            "refseq_ac": "NP_001132966",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transmembrane O-methyltransferase homolog",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.6",
                    "type": "synonym"
                },
                {
                    "name": "Catechol O-methyltransferase 2",
                    "type": "synonym"
                },
                {
                    "name": "O-methyltransferase domain containing",
                    "type": "synonym"
                },
                {
                    "name": "catechol O-methyltransferase 2",
                    "type": "synonym"
                },
                {
                    "name": "leucine rich transmembrane and 0-methyltransferase domain containing",
                    "type": "synonym"
                },
                {
                    "name": "leucine rich transmembrane and O-methyltransferase domain containing",
                    "type": "synonym"
                },
                {
                    "name": "protein LRTOMT2",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane O-methyltransferase homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tomt",
                    "type": "recommended"
                },
                {
                    "name": "Comt2",
                    "type": "synonym"
                },
                {
                    "name": "Lrtomt",
                    "type": "synonym"
                },
                {
                    "name": "RGD1561509",
                    "type": "synonym"
                },
                {
                    "name": "Tomt",
                    "type": "synonym"
                }
            ],
            "record_id": "B6CZ62-1",
            "evidence": [
                {
                    "id": "0110515",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110515"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110515"
}