{
    "disease_id": "DOID:0110500",
    "recommended_name": {
        "id": "DOID:0110500",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110500",
        "name": "autosomal recessive nonsyndromic deafness 42",
        "description": "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the ILDR1 gene on chromosome 3q13."
    },
    "synonyms": [
        {
            "id": "DOID:0110500",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110500",
            "name": "DFNB42",
            "description": ""
        },
        {
            "id": "DOID:0110500",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110500",
            "name": "autosomal recessive deafness 42",
            "description": ""
        },
        {
            "id": "MONDO:0012326",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012326",
            "name": "autosomal recessive nonsyndromic hearing loss 42",
            "description": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ILDR1 gene."
        },
        {
            "id": "MONDO:0012326",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012326",
            "name": "autosomal recessive nonsyndromic hearing loss 42",
            "description": ""
        },
        {
            "id": "MONDO:0012326",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012326",
            "name": "DFNB42",
            "description": ""
        },
        {
            "id": "MONDO:0012326",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012326",
            "name": "ILDR1 autosomal recessive nonsyndromic deafness",
            "description": ""
        },
        {
            "id": "MONDO:0012326",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012326",
            "name": "autosomal recessive deafness 42",
            "description": ""
        },
        {
            "id": "MONDO:0012326",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012326",
            "name": "autosomal recessive nonsyndromic deafness 42",
            "description": ""
        },
        {
            "id": "MONDO:0012326",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012326",
            "name": "autosomal recessive nonsyndromic deafness caused by mutation in ILDR1",
            "description": ""
        },
        {
            "id": "MONDO:0012326",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012326",
            "name": "autosomal recessive nonsyndromic deafness type 42",
            "description": ""
        },
        {
            "id": "MONDO:0012326",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012326",
            "name": "deafness, autosomal recessive 42",
            "description": ""
        },
        {
            "id": "MONDO:0012326",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012326",
            "name": "deafness, autosomal recessive type 42",
            "description": ""
        },
        {
            "id": "MIM:609646",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/609646",
            "name": "Deafness, autosomal recessive, 42",
            "description": "Deafness, autosomal recessive, 42"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110500"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110500",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110500",
            "categories": []
        },
        {
            "id": "MONDO:0012326",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012326",
            "categories": []
        },
        {
            "id": "MIM:609646",
            "database": "MIM",
            "url": "https://www.omim.org/entry/609646",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8CBR1-1",
            "uniprot_ac": "Q8CBR1",
            "uniprot_id": "ILDR1_MOUSE",
            "refseq_ac": "NP_001272717",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Immunoglobulin-like domain-containing receptor 1",
                    "type": "recommended"
                },
                {
                    "name": "Angulin-2",
                    "type": "synonym"
                },
                {
                    "name": "angulin-2",
                    "type": "synonym"
                },
                {
                    "name": "immunoglobulin-like domain-containing receptor 1 isoform 1 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ildr1",
                    "type": "recommended"
                },
                {
                    "name": "Ildr1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8CBR1-1",
            "evidence": [
                {
                    "id": "0110500",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110500"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q86SU0-1",
            "uniprot_ac": "Q86SU0",
            "uniprot_id": "ILDR1_HUMAN",
            "refseq_ac": "NP_001186728",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Immunoglobulin-like domain-containing receptor 1",
                    "type": "recommended"
                },
                {
                    "name": "Angulin-2",
                    "type": "synonym"
                },
                {
                    "name": "angulin-2",
                    "type": "synonym"
                },
                {
                    "name": "immunoglobulin-like domain-containing receptor 1 alpha",
                    "type": "synonym"
                },
                {
                    "name": "immunoglobulin-like domain-containing receptor 1 beta",
                    "type": "synonym"
                },
                {
                    "name": "immunoglobulin-like domain-containing receptor 1 isoform 1 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ILDR1",
                    "type": "recommended"
                },
                {
                    "name": "DFNB42",
                    "type": "synonym"
                },
                {
                    "name": "ILDR1alpha'",
                    "type": "synonym"
                },
                {
                    "name": "ILDR1alpha",
                    "type": "synonym"
                },
                {
                    "name": "ILDR1beta",
                    "type": "synonym"
                },
                {
                    "name": "ILDR1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q86SU0-1",
            "evidence": [
                {
                    "id": "609646",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/609646"
                },
                {
                    "id": "0110500",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110500"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6GIA2-1",
            "uniprot_ac": "A0A8I6GIA2",
            "uniprot_id": "A0A8I6GIA2_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": "Immunoglobulin-like domain containing receptor 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ildr1",
                    "type": "recommended"
                }
            ],
            "record_id": "A0A8I6GIA2-1",
            "evidence": [
                {
                    "id": "0110500",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110500"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110500"
}