{
    "disease_id": "DOID:0111634",
    "recommended_name": {
        "id": "DOID:0111634",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111634",
        "name": "autosomal recessive nonsyndromic deafness 99",
        "description": "An autosomal recessive nonsyndromic deafness characterized by prelingual, severe to profound sensorineural hearing loss without vestibular dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM132E gene on chromosome 17q12."
    },
    "synonyms": [
        {
            "id": "DOID:0111634",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111634",
            "name": "DFNB99",
            "description": ""
        },
        {
            "id": "DOID:0111634",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111634",
            "name": "autosomal recessive deafness 99",
            "description": ""
        },
        {
            "id": "MONDO:0032776",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032776",
            "name": "hearing loss, autosomal recessive 99",
            "description": ""
        },
        {
            "id": "MONDO:0032776",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032776",
            "name": "DFNB99",
            "description": ""
        },
        {
            "id": "MONDO:0032776",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032776",
            "name": "deafness, autosomal recessive 99",
            "description": ""
        },
        {
            "id": "MIM:618481",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618481",
            "name": "Deafness, autosomal recessive, 99",
            "description": "Deafness, autosomal recessive, 99"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111634"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111634",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111634",
            "categories": []
        },
        {
            "id": "MONDO:0032776",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032776",
            "categories": []
        },
        {
            "id": "MIM:618481",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618481",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "L7VG99-1",
            "uniprot_ac": "L7VG99",
            "uniprot_id": "T132E_DANRE",
            "refseq_ac": "NP_001289163",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transmembrane protein 132E",
                    "type": "recommended"
                },
                {
                    "name": "transmembrane protein 132E precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tmem132e",
                    "type": "recommended"
                },
                {
                    "name": "tmem132e",
                    "type": "synonym"
                }
            ],
            "record_id": "L7VG99-1",
            "evidence": [
                {
                    "id": "0111634",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111634"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6IEE6-1",
            "uniprot_ac": "Q6IEE6",
            "uniprot_id": "T132E_MOUSE",
            "refseq_ac": "NP_001291368",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transmembrane protein 132E",
                    "type": "recommended"
                },
                {
                    "name": "transmembrane protein 132E precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tmem132e",
                    "type": "recommended"
                },
                {
                    "name": "Gm644",
                    "type": "synonym"
                },
                {
                    "name": "Tmem132e",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6IEE6-1",
            "evidence": [
                {
                    "id": "0111634",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111634"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6IEE7-1",
            "uniprot_ac": "Q6IEE7",
            "uniprot_id": "T132E_HUMAN",
            "refseq_ac": "NP_001291367",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transmembrane protein 132E",
                    "type": "recommended"
                },
                {
                    "name": "transmembrane protein 132E precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TMEM132E",
                    "type": "recommended"
                },
                {
                    "name": "DFNB99",
                    "type": "synonym"
                },
                {
                    "name": "TMEM132E",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6IEE7-1",
            "evidence": [
                {
                    "id": "618481",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618481"
                },
                {
                    "id": "0111634",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111634"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A096MJF9-1",
            "uniprot_ac": "A0A096MJF9",
            "uniprot_id": "A0A096MJF9_RAT",
            "refseq_ac": "NP_001401263",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transmembrane protein 132E",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane protein 132E precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tmem132e",
                    "type": "recommended"
                },
                {
                    "name": "RGD1565522",
                    "type": "synonym"
                },
                {
                    "name": "Tmem132e",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A096MJF9-1",
            "evidence": [
                {
                    "id": "0111634",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111634"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "X2JEB0-1",
            "uniprot_ac": "X2JEB0",
            "uniprot_id": "X2JEB0_DROME",
            "refseq_ac": "NP_001284933",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG14446-PE",
                    "type": "synonym"
                },
                {
                    "name": "Detonator, isoform E",
                    "type": "synonym"
                },
                {
                    "name": "detonator, isoform E",
                    "type": "synonym"
                },
                {
                    "name": "dtn-PE",
                    "type": "synonym"
                },
                {
                    "name": "mRNA-like ncRNA in embryogenesis 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "dtn",
                    "type": "recommended"
                },
                {
                    "name": "CG14446 CES",
                    "type": "synonym"
                },
                {
                    "name": "CG14446",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG14446",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG14446",
                    "type": "synonym"
                },
                {
                    "name": "MRE2",
                    "type": "synonym"
                },
                {
                    "name": "dtn",
                    "type": "synonym"
                },
                {
                    "name": "lincRNA.S8753",
                    "type": "synonym"
                }
            ],
            "record_id": "X2JEB0-1",
            "evidence": [
                {
                    "id": "0111634",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111634"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111634"
}