{
    "disease_id": "DOID:0110512",
    "recommended_name": {
        "id": "DOID:0110512",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110512",
        "name": "autosomal recessive nonsyndromic deafness 6",
        "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 TMIE gene on chromosome 3p21."
    },
    "synonyms": [
        {
            "id": "DOID:0110512",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110512",
            "name": "DFNB6",
            "description": ""
        },
        {
            "id": "DOID:0110512",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110512",
            "name": "autosomal recessive deafness 6",
            "description": ""
        },
        {
            "id": "MONDO:0010965",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010965",
            "name": "autosomal recessive nonsyndromic hearing loss 6",
            "description": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TMIE gene."
        },
        {
            "id": "MONDO:0010965",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010965",
            "name": "autosomal recessive nonsyndromic hearing loss 6",
            "description": ""
        },
        {
            "id": "MONDO:0010965",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010965",
            "name": "DFNB6",
            "description": ""
        },
        {
            "id": "MONDO:0010965",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010965",
            "name": "TMIE autosomal recessive nonsyndromic deafness",
            "description": ""
        },
        {
            "id": "MONDO:0010965",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010965",
            "name": "autosomal recessive deafness 6",
            "description": ""
        },
        {
            "id": "MONDO:0010965",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010965",
            "name": "autosomal recessive nonsyndromic deafness 6",
            "description": ""
        },
        {
            "id": "MONDO:0010965",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010965",
            "name": "autosomal recessive nonsyndromic deafness caused by mutation in TMIE",
            "description": ""
        },
        {
            "id": "MONDO:0010965",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010965",
            "name": "autosomal recessive nonsyndromic deafness type 6",
            "description": ""
        },
        {
            "id": "MONDO:0010965",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010965",
            "name": "deafness, autosomal recessive 6",
            "description": ""
        },
        {
            "id": "MONDO:0010965",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010965",
            "name": "deafness, autosomal recessive type 6",
            "description": ""
        },
        {
            "id": "MONDO:0010965",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010965",
            "name": "neurosensory nonsyndromic recessive deafness 6",
            "description": ""
        },
        {
            "id": "MIM:600971",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/600971",
            "name": "Deafness, autosomal recessive, 6",
            "description": "Deafness, autosomal recessive, 6"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110512"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110512",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110512",
            "categories": []
        },
        {
            "id": "MONDO:0010965",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010965",
            "categories": []
        },
        {
            "id": "MIM:600971",
            "database": "MIM",
            "url": "https://www.omim.org/entry/600971",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8K467-1",
            "uniprot_ac": "Q8K467",
            "uniprot_id": "TMIE_MOUSE",
            "refseq_ac": "NP_666372",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transmembrane inner ear expressed protein",
                    "type": "recommended"
                },
                {
                    "name": "spinner",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane inner ear expressed protein precursor",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane inner ear expressed protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tmie",
                    "type": "recommended"
                },
                {
                    "name": "5131400L21Rik",
                    "type": "synonym"
                },
                {
                    "name": "Mm.87012",
                    "type": "synonym"
                },
                {
                    "name": "Tmie",
                    "type": "synonym"
                },
                {
                    "name": "sr",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8K467-1",
            "evidence": [
                {
                    "id": "0110512",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110512"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8NEW7-1",
            "uniprot_ac": "Q8NEW7",
            "uniprot_id": "TMIE_HUMAN",
            "refseq_ac": "NP_671729",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transmembrane inner ear expressed protein",
                    "type": "recommended"
                },
                {
                    "name": "transmembrane inner ear expressed protein isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane inner ear expressed protein",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane inner ear protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TMIE",
                    "type": "recommended"
                },
                {
                    "name": "DFNB6",
                    "type": "synonym"
                },
                {
                    "name": "TMIE",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8NEW7-1",
            "evidence": [
                {
                    "id": "600971",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/600971"
                },
                {
                    "id": "0110512",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110512"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0KZC1-1",
            "uniprot_ac": "A0ABK0KZC1",
            "uniprot_id": "A0ABK0KZC1_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transmembrane inner ear",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tmie",
                    "type": "recommended"
                }
            ],
            "record_id": "A0ABK0KZC1-1",
            "evidence": [
                {
                    "id": "0110512",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110512"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VIM4-1",
            "uniprot_ac": "Q9VIM4",
            "uniprot_id": "Q9VIM4_DROME",
            "refseq_ac": "NP_610034",
            "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 inner ear expressed protein",
                    "type": "recommended"
                },
                {
                    "name": "CG15130-PB",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "38C.48",
                    "type": "recommended"
                },
                {
                    "name": "Dmel\\CG15130",
                    "type": "recommended"
                },
                {
                    "name": "38C.48",
                    "type": "synonym"
                },
                {
                    "name": "CG15130",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG15130",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG15130",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VIM4-1",
            "evidence": [
                {
                    "id": "0110512",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110512"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110512"
}