{
    "disease_id": "DOID:0111628",
    "recommended_name": {
        "id": "DOID:0111628",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111628",
        "name": "high myopia-sensorineural deafness syndrome",
        "description": "A syndrome characterized by severe myopia and moderate to profound, bilateral, progressive sensorineural hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the SLITRK6 gene on chromosome 13q31.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111628",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111628",
            "name": "DFNMYP",
            "description": ""
        },
        {
            "id": "DOID:0111628",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111628",
            "name": "deafness and myopia",
            "description": ""
        },
        {
            "id": "DOID:0111628",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111628",
            "name": "deafness and myopia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009082",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009082",
            "name": "high myopia-sensorineural deafness syndrome",
            "description": "High myopia-sensorineural deafness syndrome is a rare genetic disease characterized by high myopia, typically ranging from -6.0 to -11.0 diopters, and moderate to profound, bilateral, progressive sensorineural hearing loss with prelingual-onset. Affected individuals do not present other systemic, ocular or connective tissue manifestations."
        },
        {
            "id": "MONDO:0009082",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009082",
            "name": "high myopia-sensorineural deafness syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009082",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009082",
            "name": "DFNMYP",
            "description": ""
        },
        {
            "id": "MONDO:0009082",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009082",
            "name": "deafness and myopia",
            "description": ""
        },
        {
            "id": "MONDO:0009082",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009082",
            "name": "deafness and myopia syndrome",
            "description": ""
        },
        {
            "id": "MIM:221200",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/221200",
            "name": "Deafness and myopia",
            "description": "Deafness and myopia"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111628"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111628",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111628",
            "categories": []
        },
        {
            "id": "MONDO:0009082",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009082",
            "categories": []
        },
        {
            "id": "MIM:221200",
            "database": "MIM",
            "url": "https://www.omim.org/entry/221200",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A0R4IS19-1",
            "uniprot_ac": "A0A0R4IS19",
            "uniprot_id": "A0A0R4IS19_DANRE",
            "refseq_ac": "NP_001292482",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "SLIT and NTRK-like protein 6 precursor",
                    "type": "synonym"
                },
                {
                    "name": "slit and trk like 6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "slitrk6",
                    "type": "recommended"
                },
                {
                    "name": "slitrk6",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc18f06",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0R4IS19-1",
            "evidence": [
                {
                    "id": "0111628",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111628"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8C110-1",
            "uniprot_ac": "Q8C110",
            "uniprot_id": "SLIK6_MOUSE",
            "refseq_ac": "NP_780708",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "SLIT and NTRK-like protein 6",
                    "type": "recommended"
                },
                {
                    "name": "SLIT and NTRK-like protein 6 precursor",
                    "type": "synonym"
                },
                {
                    "name": "SLIT and NTRK-like protein 6",
                    "type": "synonym"
                },
                {
                    "name": "neuronal transmembrane protein Slitrk6",
                    "type": "synonym"
                },
                {
                    "name": "slit and trk like gene 6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slitrk6",
                    "type": "recommended"
                },
                {
                    "name": "4832410J21Rik",
                    "type": "synonym"
                },
                {
                    "name": "Slitrk6",
                    "type": "synonym"
                },
                {
                    "name": "Sltk6",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8C110-1",
            "evidence": [
                {
                    "id": "0111628",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111628"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9H5Y7-1",
            "uniprot_ac": "Q9H5Y7",
            "uniprot_id": "SLIK6_HUMAN",
            "refseq_ac": "NP_115605",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "SLIT and NTRK-like protein 6",
                    "type": "recommended"
                },
                {
                    "name": "4832410J21Rik",
                    "type": "synonym"
                },
                {
                    "name": "SLIT and NTRK-like protein 6 precursor",
                    "type": "synonym"
                },
                {
                    "name": "SLIT and NTRK-like protein 6",
                    "type": "synonym"
                },
                {
                    "name": "slit and trk like gene 6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SLITRK6",
                    "type": "recommended"
                },
                {
                    "name": "DFNMYP",
                    "type": "synonym"
                },
                {
                    "name": "SLITRK6",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9H5Y7-1",
            "evidence": [
                {
                    "id": "221200",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/221200"
                },
                {
                    "id": "0111628",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111628"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZP44-1",
            "uniprot_ac": "D3ZP44",
            "uniprot_id": "D3ZP44_RAT",
            "refseq_ac": "NP_001099527",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "SLIT and NTRK-like family, member 6",
                    "type": "synonym"
                },
                {
                    "name": "SLIT and NTRK-like protein 6 precursor",
                    "type": "synonym"
                },
                {
                    "name": "SLIT and NTRK-like protein 6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slitrk6",
                    "type": "recommended"
                },
                {
                    "name": "Slitrk6",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZP44-1",
            "evidence": [
                {
                    "id": "0111628",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111628"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VK22-1",
            "uniprot_ac": "Q9VK22",
            "uniprot_id": "Q9VK22_DROME",
            "refseq_ac": "NP_001260435",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG9431-PB",
                    "type": "synonym"
                },
                {
                    "name": "Kekkon 4, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "Kekkon 4, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "Kekkon 4, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "kek4-PB",
                    "type": "synonym"
                },
                {
                    "name": "kekkon 4, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "kekkon-like",
                    "type": "synonym"
                },
                {
                    "name": "kekkon4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "kek4",
                    "type": "recommended"
                },
                {
                    "name": "CG9431",
                    "type": "synonym"
                },
                {
                    "name": "CT26742",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9431",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG9431",
                    "type": "synonym"
                },
                {
                    "name": "kek-4",
                    "type": "synonym"
                },
                {
                    "name": "kek4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VK22-1",
            "evidence": [
                {
                    "id": "0111628",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111628"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111628"
}