{
    "disease_id": "DOID:0110525",
    "recommended_name": {
        "id": "DOID:0110525",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110525",
        "name": "autosomal recessive nonsyndromic deafness 77",
        "description": "An autosomal recessive nonsyndromic deafness that is characterized by postlingual onset with moderate to profound, progressive hearing loss and has_material_basis_in mutation in the LOXHD1 gene on chromosome 18q21."
    },
    "synonyms": [
        {
            "id": "DOID:0110525",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110525",
            "name": "DFNB77",
            "description": ""
        },
        {
            "id": "DOID:0110525",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110525",
            "name": "autosomal recessive deafness 77",
            "description": ""
        },
        {
            "id": "MONDO:0013119",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013119",
            "name": "autosomal recessive nonsyndromic hearing loss 77",
            "description": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the LOXHD1 gene."
        },
        {
            "id": "MONDO:0013119",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013119",
            "name": "autosomal recessive nonsyndromic hearing loss 77",
            "description": ""
        },
        {
            "id": "MONDO:0013119",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013119",
            "name": "DFNB77",
            "description": ""
        },
        {
            "id": "MONDO:0013119",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013119",
            "name": "LOXHD1 autosomal recessive nonsyndromic deafness",
            "description": ""
        },
        {
            "id": "MONDO:0013119",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013119",
            "name": "autosomal recessive deafness 77",
            "description": ""
        },
        {
            "id": "MONDO:0013119",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013119",
            "name": "autosomal recessive nonsyndromic deafness 77",
            "description": ""
        },
        {
            "id": "MONDO:0013119",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013119",
            "name": "autosomal recessive nonsyndromic deafness caused by mutation in LOXHD1",
            "description": ""
        },
        {
            "id": "MONDO:0013119",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013119",
            "name": "autosomal recessive nonsyndromic deafness type 77",
            "description": ""
        },
        {
            "id": "MONDO:0013119",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013119",
            "name": "deafness, autosomal recessive 77",
            "description": ""
        },
        {
            "id": "MONDO:0013119",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013119",
            "name": "deafness, autosomal recessive type 77",
            "description": ""
        },
        {
            "id": "MIM:613079",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613079",
            "name": "Deafness, autosomal recessive, 77",
            "description": "Deafness, autosomal recessive, 77"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110525"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110525",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110525",
            "categories": []
        },
        {
            "id": "MONDO:0013119",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013119",
            "categories": []
        },
        {
            "id": "MIM:613079",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613079",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9PUC9-1",
            "uniprot_ac": "A0A8M9PUC9",
            "uniprot_id": "A0A8M9PUC9_DANRE",
            "refseq_ac": "XP_021324660",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Lipoxygenase homology domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "lipoxygenase homology domain-containing protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "loxhd1a",
                    "type": "recommended"
                },
                {
                    "name": "loxhd1a",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9PUC9-1",
            "evidence": [
                {
                    "id": "0110525",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110525"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M1QHF7-1",
            "uniprot_ac": "A0A8M1QHF7",
            "uniprot_id": "A0A8M1QHF7_DANRE",
            "refseq_ac": "XP_001920640",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Lipoxygenase homology domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "lipoxygenase homology domain-containing protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "loxhd1b",
                    "type": "recommended"
                },
                {
                    "name": "loxhd1b",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1QHF7-1",
            "evidence": [
                {
                    "id": "0110525",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110525"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "C8YR32-1",
            "uniprot_ac": "C8YR32",
            "uniprot_id": "LOXH1_MOUSE",
            "refseq_ac": "NP_766422",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Lipoxygenase homology domain-containing protein 1",
                    "type": "recommended"
                },
                {
                    "name": "lipoxygenase homology domain-containing protein 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "lipoxygenase homology domain-containing protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Loxhd1",
                    "type": "recommended"
                },
                {
                    "name": "1700096C21Rik",
                    "type": "synonym"
                },
                {
                    "name": "4932417K07",
                    "type": "synonym"
                },
                {
                    "name": "Loxhd1",
                    "type": "synonym"
                },
                {
                    "name": "sba",
                    "type": "synonym"
                }
            ],
            "record_id": "C8YR32-1",
            "evidence": [
                {
                    "id": "0110525",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110525"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8IVV2-1",
            "uniprot_ac": "Q8IVV2",
            "uniprot_id": "LOXH1_HUMAN",
            "refseq_ac": "NP_001138944",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Lipoxygenase homology domain-containing protein 1",
                    "type": "recommended"
                },
                {
                    "name": "lipoxygenase homology domain-containing protein 1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "lipoxygenase homology domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "lipoxygenase homology domains 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LOXHD1",
                    "type": "recommended"
                },
                {
                    "name": "DFNB77",
                    "type": "synonym"
                },
                {
                    "name": "LH2D1",
                    "type": "synonym"
                },
                {
                    "name": "LOXHD1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8IVV2-1",
            "evidence": [
                {
                    "id": "613079",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613079"
                },
                {
                    "id": "0110525",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110525"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6ANZ5-1",
            "uniprot_ac": "A0A8I6ANZ5",
            "uniprot_id": "A0A8I6ANZ5_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Lipoxygenase homology PLAT domains 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Loxhd1",
                    "type": "recommended"
                }
            ],
            "record_id": "A0A8I6ANZ5-1",
            "evidence": [
                {
                    "id": "0110525",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110525"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110525"
}