{
    "disease_id": "DOID:0110470",
    "recommended_name": {
        "id": "DOID:0110470",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110470",
        "name": "autosomal recessive nonsyndromic deafness 15",
        "description": "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the GIPC3 gene on chromosome 19p13."
    },
    "synonyms": [
        {
            "id": "DOID:0110470",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110470",
            "name": "DFNB15",
            "description": ""
        },
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            "id": "DOID:0110470",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110470",
            "name": "DFNB72",
            "description": ""
        },
        {
            "id": "DOID:0110470",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110470",
            "name": "DFNB95",
            "description": ""
        },
        {
            "id": "DOID:0110470",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110470",
            "name": "autosomal recessive deafness 15",
            "description": ""
        },
        {
            "id": "DOID:0110470",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110470",
            "name": "autosomal recessive deafness 72",
            "description": ""
        },
        {
            "id": "DOID:0110470",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110470",
            "name": "autosomal recessive deafness 95",
            "description": ""
        },
        {
            "id": "MONDO:0011160",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011160",
            "name": "autosomal recessive nonsyndromic hearing loss 15",
            "description": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the GIPC3 gene."
        },
        {
            "id": "MONDO:0011160",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011160",
            "name": "autosomal recessive nonsyndromic hearing loss 15",
            "description": ""
        },
        {
            "id": "MONDO:0011160",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011160",
            "name": "DFNB15",
            "description": ""
        },
        {
            "id": "MONDO:0011160",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011160",
            "name": "DFNB72",
            "description": ""
        },
        {
            "id": "MONDO:0011160",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011160",
            "name": "DFNB95",
            "description": ""
        },
        {
            "id": "MONDO:0011160",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011160",
            "name": "GIPC3 autosomal recessive nonsyndromic deafness",
            "description": ""
        },
        {
            "id": "MONDO:0011160",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011160",
            "name": "autosomal recessive deafness 15",
            "description": ""
        },
        {
            "id": "MONDO:0011160",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011160",
            "name": "autosomal recessive deafness 72",
            "description": ""
        },
        {
            "id": "MONDO:0011160",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011160",
            "name": "autosomal recessive deafness 95",
            "description": ""
        },
        {
            "id": "MONDO:0011160",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011160",
            "name": "autosomal recessive nonsyndromic deafness 15",
            "description": ""
        },
        {
            "id": "MONDO:0011160",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011160",
            "name": "autosomal recessive nonsyndromic deafness caused by mutation in GIPC3",
            "description": ""
        },
        {
            "id": "MONDO:0011160",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011160",
            "name": "autosomal recessive nonsyndromic deafness type 15",
            "description": ""
        },
        {
            "id": "MONDO:0011160",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011160",
            "name": "deafness, autosomal recessive 15",
            "description": ""
        },
        {
            "id": "MONDO:0011160",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011160",
            "name": "deafness, autosomal recessive 72",
            "description": ""
        },
        {
            "id": "MONDO:0011160",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011160",
            "name": "deafness, autosomal recessive 95",
            "description": ""
        },
        {
            "id": "MONDO:0011160",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011160",
            "name": "deafness, autosomal recessive type 15",
            "description": ""
        },
        {
            "id": "MIM:601869",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/601869",
            "name": "Deafness, autosomal recessive, 15",
            "description": "Deafness, autosomal recessive, 15"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110470"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110470",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110470",
            "categories": []
        },
        {
            "id": "MONDO:0011160",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011160",
            "categories": []
        },
        {
            "id": "MIM:601869",
            "database": "MIM",
            "url": "https://www.omim.org/entry/601869",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1NAF3-1",
            "uniprot_ac": "A0A8M1NAF3",
            "uniprot_id": "A0A8M1NAF3_DANRE",
            "refseq_ac": "NP_001038783",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "PDZ domain-containing protein GIPC3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "gipc3",
                    "type": "recommended"
                },
                {
                    "name": "CH1073-422L2.1",
                    "type": "synonym"
                },
                {
                    "name": "gipc3",
                    "type": "synonym"
                },
                {
                    "name": "zgc:136839",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1NAF3-1",
            "evidence": [
                {
                    "id": "0110470",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110470"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8R5M0-1",
            "uniprot_ac": "Q8R5M0",
            "uniprot_id": "GIPC3_MOUSE",
            "refseq_ac": "NP_683753",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "PDZ domain-containing protein GIPC3",
                    "type": "recommended"
                },
                {
                    "name": "PDZ domain-containing protein GIPC3 isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "PDZ domain-containing protein GIPC3",
                    "type": "synonym"
                },
                {
                    "name": "Regulator of G protein signaling 19-interacting protein 3",
                    "type": "synonym"
                },
                {
                    "name": "age related hearing loss 5",
                    "type": "synonym"
                },
                {
                    "name": "regulator of G-protein signaling 19 interacting protein 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gipc3",
                    "type": "recommended"
                },
                {
                    "name": "Ahl5",
                    "type": "synonym"
                },
                {
                    "name": "Gipc3",
                    "type": "synonym"
                },
                {
                    "name": "Rgs19ip3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8R5M0-1",
            "evidence": [
                {
                    "id": "0110470",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110470"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8TF64-1",
            "uniprot_ac": "Q8TF64",
            "uniprot_id": "GIPC3_HUMAN",
            "refseq_ac": "NP_573568",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "PDZ domain-containing protein GIPC3",
                    "type": "recommended"
                },
                {
                    "name": "PDZ domain-containing protein GIPC3 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "PDZ domain-containing protein GIPC3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GIPC3",
                    "type": "recommended"
                },
                {
                    "name": "C19orf64",
                    "type": "synonym"
                },
                {
                    "name": "DFNB15",
                    "type": "synonym"
                },
                {
                    "name": "DFNB72",
                    "type": "synonym"
                },
                {
                    "name": "DFNB95",
                    "type": "synonym"
                },
                {
                    "name": "GIPC3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8TF64-1",
            "evidence": [
                {
                    "id": "601869",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/601869"
                },
                {
                    "id": "0110470",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110470"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LNW2-1",
            "uniprot_ac": "A0ABK0LNW2",
            "uniprot_id": "A0ABK0LNW2_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": "GIPC PDZ domain containing family, member 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gipc3",
                    "type": "recommended"
                }
            ],
            "record_id": "A0ABK0LNW2-1",
            "evidence": [
                {
                    "id": "0110470",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110470"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110470"
}