{
    "disease_id": "DOID:0110505",
    "recommended_name": {
        "id": "DOID:0110505",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110505",
        "name": "autosomal recessive nonsyndromic deafness 48",
        "description": "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the CIB2 gene on chromosome 15q25."
    },
    "synonyms": [
        {
            "id": "DOID:0110505",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110505",
            "name": "DFNB48",
            "description": ""
        },
        {
            "id": "DOID:0110505",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110505",
            "name": "autosomal recessive deafness 48",
            "description": ""
        },
        {
            "id": "MONDO:0012273",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012273",
            "name": "autosomal recessive nonsyndromic hearing loss 48",
            "description": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the CIB2 gene."
        },
        {
            "id": "MONDO:0012273",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012273",
            "name": "USH1J",
            "description": ""
        },
        {
            "id": "MONDO:0012273",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012273",
            "name": "Usher syndrome type 1J",
            "description": ""
        },
        {
            "id": "MONDO:0012273",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012273",
            "name": "autosomal recessive nonsyndromic hearing loss 48",
            "description": ""
        },
        {
            "id": "MONDO:0012273",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012273",
            "name": "CIB2 autosomal recessive nonsyndromic deafness",
            "description": ""
        },
        {
            "id": "MONDO:0012273",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012273",
            "name": "DFNB48",
            "description": ""
        },
        {
            "id": "MONDO:0012273",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012273",
            "name": "autosomal recessive nonsyndromic deafness caused by mutation in CIB2",
            "description": ""
        },
        {
            "id": "MONDO:0012273",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012273",
            "name": "autosomal recessive nonsyndromic deafness type 48",
            "description": ""
        },
        {
            "id": "MONDO:0012273",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012273",
            "name": "deafness, autosomal recessive 48",
            "description": ""
        },
        {
            "id": "MONDO:0012273",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012273",
            "name": "deafness, autosomal recessive type 48",
            "description": ""
        },
        {
            "id": "MIM:609439",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/609439",
            "name": "Deafness, autosomal recessive, 48",
            "description": "Deafness, autosomal recessive, 48"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110505"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110505",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110505",
            "categories": []
        },
        {
            "id": "MONDO:0012273",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012273",
            "categories": []
        },
        {
            "id": "MIM:609439",
            "database": "MIM",
            "url": "https://www.omim.org/entry/609439",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q6PC72-1",
            "uniprot_ac": "Q6PC72",
            "uniprot_id": "CIB2_DANRE",
            "refseq_ac": "NP_957000",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Calcium and integrin-binding family member 2",
                    "type": "recommended"
                },
                {
                    "name": "calcium and integrin-binding family member 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cib2",
                    "type": "recommended"
                },
                {
                    "name": "cib2",
                    "type": "synonym"
                },
                {
                    "name": "zgc:73079",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6PC72-1",
            "evidence": [
                {
                    "id": "0110505",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110505"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Z309-1",
            "uniprot_ac": "Q9Z309",
            "uniprot_id": "CIB2_MOUSE",
            "refseq_ac": "NP_062660",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Calcium and integrin-binding family member 2",
                    "type": "recommended"
                },
                {
                    "name": "KIP 2",
                    "type": "synonym"
                },
                {
                    "name": "Kinase-interacting protein 2",
                    "type": "synonym"
                },
                {
                    "name": "calcium and integrin-binding family member 2",
                    "type": "synonym"
                },
                {
                    "name": "calcium binding protein Kip2",
                    "type": "synonym"
                },
                {
                    "name": "kinase-interacting protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cib2",
                    "type": "recommended"
                },
                {
                    "name": "2810434I23Rik",
                    "type": "synonym"
                },
                {
                    "name": "Cib2",
                    "type": "synonym"
                },
                {
                    "name": "KIP 2",
                    "type": "synonym"
                },
                {
                    "name": "KIP2",
                    "type": "synonym"
                },
                {
                    "name": "Kip2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Z309-1",
            "evidence": [
                {
                    "id": "0110505",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110505"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O75838-1",
            "uniprot_ac": "O75838",
            "uniprot_id": "CIB2_HUMAN",
            "refseq_ac": "NP_001258817",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Calcium and integrin-binding family member 2",
                    "type": "recommended"
                },
                {
                    "name": "DNA-dependent protein kinase catalytic subunit-interacting protein 2",
                    "type": "synonym"
                },
                {
                    "name": "KIP 2",
                    "type": "synonym"
                },
                {
                    "name": "Kinase-interacting protein 2",
                    "type": "synonym"
                },
                {
                    "name": "calcium and integrin-binding family member 2 isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CIB2",
                    "type": "recommended"
                },
                {
                    "name": "CIB2",
                    "type": "synonym"
                },
                {
                    "name": "DFNB48",
                    "type": "synonym"
                },
                {
                    "name": "KIP2",
                    "type": "synonym"
                },
                {
                    "name": "USH1J",
                    "type": "synonym"
                }
            ],
            "record_id": "O75838-1",
            "evidence": [
                {
                    "id": "609439",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/609439"
                },
                {
                    "id": "0110505",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110505"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q568Z7-1",
            "uniprot_ac": "Q568Z7",
            "uniprot_id": "CIB2_RAT",
            "refseq_ac": "NP_001015010",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Calcium and integrin-binding family member 2",
                    "type": "recommended"
                },
                {
                    "name": "calcium and integrin-binding family member 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cib2",
                    "type": "recommended"
                },
                {
                    "name": "Cib2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q568Z7-1",
            "evidence": [
                {
                    "id": "0110505",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110505"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W2Q5-1",
            "uniprot_ac": "Q9W2Q5",
            "uniprot_id": "CIB2_DROME",
            "refseq_ac": "NP_611523",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Calcium and integrin-binding family member 2",
                    "type": "recommended"
                },
                {
                    "name": "CG9236-PB",
                    "type": "synonym"
                },
                {
                    "name": "CIB2 ortholog",
                    "type": "synonym"
                },
                {
                    "name": "Cib2-PB",
                    "type": "synonym"
                },
                {
                    "name": "calcium and integrin binding family member 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cib2",
                    "type": "recommended"
                },
                {
                    "name": "CG9236",
                    "type": "synonym"
                },
                {
                    "name": "Cib2",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9236",
                    "type": "synonym"
                },
                {
                    "name": "cib2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W2Q5-1",
            "evidence": [
                {
                    "id": "0110505",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110505"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110505"
}