{
    "disease_id": "DOID:0110537",
    "recommended_name": {
        "id": "DOID:0110537",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110537",
        "name": "autosomal recessive nonsyndromic deafness 93",
        "description": "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the CABP2 gene on chromosome 11q13."
    },
    "synonyms": [
        {
            "id": "DOID:0110537",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110537",
            "name": "DFNB93",
            "description": ""
        },
        {
            "id": "DOID:0110537",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110537",
            "name": "autosomal recessive deafness 93",
            "description": ""
        },
        {
            "id": "MONDO:0013963",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013963",
            "name": "autosomal recessive nonsyndromic hearing loss 93",
            "description": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the CABP2 gene."
        },
        {
            "id": "MONDO:0013963",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013963",
            "name": "autosomal recessive nonsyndromic hearing loss 93",
            "description": ""
        },
        {
            "id": "MONDO:0013963",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013963",
            "name": "CABP2 autosomal recessive nonsyndromic deafness",
            "description": ""
        },
        {
            "id": "MONDO:0013963",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013963",
            "name": "DFNB93",
            "description": ""
        },
        {
            "id": "MONDO:0013963",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013963",
            "name": "autosomal recessive deafness 93",
            "description": ""
        },
        {
            "id": "MONDO:0013963",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013963",
            "name": "autosomal recessive nonsyndromic deafness 93",
            "description": ""
        },
        {
            "id": "MONDO:0013963",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013963",
            "name": "autosomal recessive nonsyndromic deafness caused by mutation in CABP2",
            "description": ""
        },
        {
            "id": "MONDO:0013963",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013963",
            "name": "autosomal recessive nonsyndromic deafness type 93",
            "description": ""
        },
        {
            "id": "MONDO:0013963",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013963",
            "name": "deafness, autosomal recessive 93",
            "description": ""
        },
        {
            "id": "MONDO:0013963",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013963",
            "name": "deafness, autosomal recessive type 93",
            "description": ""
        },
        {
            "id": "MIM:614899",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614899",
            "name": "Deafness, autosomal recessive, 93",
            "description": "Deafness, autosomal recessive, 93"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110537"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110537",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110537",
            "categories": []
        },
        {
            "id": "MONDO:0013963",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013963",
            "categories": []
        },
        {
            "id": "MIM:614899",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614899",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9QL43-1",
            "uniprot_ac": "A0A8M9QL43",
            "uniprot_id": "A0A8M9QL43_DANRE",
            "refseq_ac": "XP_021336936",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Calcium-binding protein 2 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "calcium-binding protein 2 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cabp2b",
                    "type": "recommended"
                },
                {
                    "name": "cabp2b",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9QL43-1",
            "evidence": [
                {
                    "id": "0110537",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110537"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0R4IU57-1",
            "uniprot_ac": "A0A0R4IU57",
            "uniprot_id": "A0A0R4IU57_DANRE",
            "refseq_ac": "NP_001025439",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Calcium-binding protein 2a",
                    "type": "synonym"
                },
                {
                    "name": "calcium-binding protein 2a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cabp2a",
                    "type": "recommended"
                },
                {
                    "name": "cabp2a",
                    "type": "synonym"
                },
                {
                    "name": "zgc:112300",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0R4IU57-1",
            "evidence": [
                {
                    "id": "0110537",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110537"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9JLK4-1",
            "uniprot_ac": "Q9JLK4",
            "uniprot_id": "CABP2_MOUSE",
            "refseq_ac": "NP_001153724",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Calcium-binding protein 2",
                    "type": "recommended"
                },
                {
                    "name": "CaBP2",
                    "type": "synonym"
                },
                {
                    "name": "calcium-binding protein 2 isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cabp2",
                    "type": "recommended"
                },
                {
                    "name": "Cabp2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9JLK4-1",
            "evidence": [
                {
                    "id": "0110537",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110537"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NPB3-1",
            "uniprot_ac": "Q9NPB3",
            "uniprot_id": "CABP2_HUMAN",
            "refseq_ac": "NP_001305425",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Calcium-binding protein 2",
                    "type": "recommended"
                },
                {
                    "name": "CaBP2",
                    "type": "synonym"
                },
                {
                    "name": "calcium-binding protein 2 isoform 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CABP2",
                    "type": "recommended"
                },
                {
                    "name": "CABP2",
                    "type": "synonym"
                },
                {
                    "name": "DFNB93",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NPB3-1",
            "evidence": [
                {
                    "id": "614899",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614899"
                },
                {
                    "id": "0110537",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110537"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0L206-1",
            "uniprot_ac": "A0ABK0L206",
            "uniprot_id": "A0ABK0L206_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Calcium binding protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cabp2",
                    "type": "recommended"
                }
            ],
            "record_id": "A0ABK0L206-1",
            "evidence": [
                {
                    "id": "0110537",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110537"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110537"
}