{
    "disease_id": "DOID:0110464",
    "recommended_name": {
        "id": "DOID:0110464",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110464",
        "name": "autosomal recessive nonsyndromic deafness 103",
        "description": "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the CLIC5 gene on chromosome 6p21."
    },
    "synonyms": [
        {
            "id": "DOID:0110464",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110464",
            "name": "DFNB103",
            "description": ""
        },
        {
            "id": "DOID:0110464",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110464",
            "name": "autosomal recessive deafness 103",
            "description": ""
        },
        {
            "id": "MONDO:0014469",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014469",
            "name": "autosomal recessive nonsyndromic hearing loss 103",
            "description": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the CLIC5 gene."
        },
        {
            "id": "MONDO:0014469",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014469",
            "name": "CLIC5 autosomal recessive nonsyndromic deafness",
            "description": ""
        },
        {
            "id": "MONDO:0014469",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014469",
            "name": "DFNB103",
            "description": ""
        },
        {
            "id": "MONDO:0014469",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014469",
            "name": "autosomal recessive deafness 103",
            "description": ""
        },
        {
            "id": "MONDO:0014469",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014469",
            "name": "autosomal recessive nonsyndromic deafness 103",
            "description": ""
        },
        {
            "id": "MONDO:0014469",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014469",
            "name": "autosomal recessive nonsyndromic deafness caused by mutation in CLIC5",
            "description": ""
        },
        {
            "id": "MONDO:0014469",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014469",
            "name": "autosomal recessive nonsyndromic deafness type 103",
            "description": ""
        },
        {
            "id": "MONDO:0014469",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014469",
            "name": "deafness, autosomal recessive 103",
            "description": ""
        },
        {
            "id": "MONDO:0014469",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014469",
            "name": "deafness, autosomal recessive type 103",
            "description": ""
        },
        {
            "id": "MIM:616042",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616042",
            "name": "Deafness, autosomal recessive, 103",
            "description": "Deafness, autosomal recessive, 103"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110464"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110464",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110464",
            "categories": []
        },
        {
            "id": "MONDO:0014469",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014469",
            "categories": []
        },
        {
            "id": "MIM:616042",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616042",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8BXK9-1",
            "uniprot_ac": "Q8BXK9",
            "uniprot_id": "CLIC5_MOUSE",
            "refseq_ac": "NP_766209",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Chloride intracellular channel protein 5",
                    "type": "recommended"
                },
                {
                    "name": "1.8.-.-",
                    "type": "synonym"
                },
                {
                    "name": "Glutaredoxin-like oxidoreductase CLIC5",
                    "type": "synonym"
                },
                {
                    "name": "chloride intracellular channel protein 5",
                    "type": "synonym"
                },
                {
                    "name": "glutaredoxin-like oxidoreductase CLIC5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Clic5",
                    "type": "recommended"
                },
                {
                    "name": "5730531E12Rik",
                    "type": "synonym"
                },
                {
                    "name": "B330005L24",
                    "type": "synonym"
                },
                {
                    "name": "Clic5",
                    "type": "synonym"
                },
                {
                    "name": "Gm322",
                    "type": "synonym"
                },
                {
                    "name": "jbg",
                    "type": "synonym"
                },
                {
                    "name": "nmf318",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BXK9-1",
            "evidence": [
                {
                    "id": "0110464",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110464"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NZA1-1",
            "uniprot_ac": "Q9NZA1",
            "uniprot_id": "CLIC5_HUMAN",
            "refseq_ac": "NP_001107558",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Chloride intracellular channel protein 5",
                    "type": "recommended"
                },
                {
                    "name": "1.8.-.-",
                    "type": "synonym"
                },
                {
                    "name": "Glutaredoxin-like oxidoreductase CLIC5",
                    "type": "synonym"
                },
                {
                    "name": "chloride intracellular channel 5",
                    "type": "synonym"
                },
                {
                    "name": "chloride intracellular channel protein 5 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "chloride intracellular channel protein 5",
                    "type": "synonym"
                },
                {
                    "name": "glutaredoxin-like oxidoreductase CLIC5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CLIC5",
                    "type": "recommended"
                },
                {
                    "name": "CLIC5",
                    "type": "synonym"
                },
                {
                    "name": "DFNB102",
                    "type": "synonym"
                },
                {
                    "name": "DFNB103",
                    "type": "synonym"
                },
                {
                    "name": "MST130",
                    "type": "synonym"
                },
                {
                    "name": "MSTP130",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NZA1-1",
            "evidence": [
                {
                    "id": "616042",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616042"
                },
                {
                    "id": "0110464",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110464"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9EPT8-1",
            "uniprot_ac": "Q9EPT8",
            "uniprot_id": "CLIC5_RAT",
            "refseq_ac": "NP_446055",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Chloride intracellular channel protein 5",
                    "type": "recommended"
                },
                {
                    "name": "1.8.-.-",
                    "type": "synonym"
                },
                {
                    "name": "Glutaredoxin-like oxidoreductase CLIC5",
                    "type": "synonym"
                },
                {
                    "name": "chloride intracellular channel 5",
                    "type": "synonym"
                },
                {
                    "name": "chloride intracellular channel protein 5",
                    "type": "synonym"
                },
                {
                    "name": "glutaredoxin-like oxidoreductase CLIC5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Clic5",
                    "type": "recommended"
                },
                {
                    "name": "Clic5",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9EPT8-1",
            "evidence": [
                {
                    "id": "0110464",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110464"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VY78-1",
            "uniprot_ac": "Q9VY78",
            "uniprot_id": "CLIC_DROME",
            "refseq_ac": "NP_001259537",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Chloride intracellular channel Clic",
                    "type": "recommended"
                },
                {
                    "name": "CG10997-PC",
                    "type": "synonym"
                },
                {
                    "name": "Clic-PC",
                    "type": "synonym"
                },
                {
                    "name": "chloride intracellular channel, isoform C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Clic",
                    "type": "recommended"
                },
                {
                    "name": "CG10997",
                    "type": "synonym"
                },
                {
                    "name": "CLIC",
                    "type": "synonym"
                },
                {
                    "name": "Clic",
                    "type": "synonym"
                },
                {
                    "name": "DCLIC",
                    "type": "synonym"
                },
                {
                    "name": "DmCLIC",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10997",
                    "type": "synonym"
                },
                {
                    "name": "clic",
                    "type": "synonym"
                },
                {
                    "name": "l(1)G0053",
                    "type": "synonym"
                },
                {
                    "name": "l(1)G0472",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VY78-1",
            "evidence": [
                {
                    "id": "0110464",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110464"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110464"
}