{
    "disease_id": "DOID:0110589",
    "recommended_name": {
        "id": "DOID:0110589",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110589",
        "name": "autosomal dominant nonsyndromic deafness 68",
        "description": "An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the HOMER2 gene on chromosome 15q25."
    },
    "synonyms": [
        {
            "id": "DOID:0110589",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110589",
            "name": "DFNA68",
            "description": ""
        },
        {
            "id": "DOID:0110589",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110589",
            "name": "autosomal dominant deafness 68",
            "description": ""
        },
        {
            "id": "MONDO:0014740",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014740",
            "name": "autosomal dominant nonsyndromic hearing loss 68",
            "description": "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the HOMER2 gene."
        },
        {
            "id": "MONDO:0014740",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014740",
            "name": "DFNA68",
            "description": ""
        },
        {
            "id": "MONDO:0014740",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014740",
            "name": "HOMER2 autosomal dominant nonsyndromic deafness",
            "description": ""
        },
        {
            "id": "MONDO:0014740",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014740",
            "name": "autosomal dominant deafness 68",
            "description": ""
        },
        {
            "id": "MONDO:0014740",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014740",
            "name": "autosomal dominant nonsyndromic deafness 68",
            "description": ""
        },
        {
            "id": "MONDO:0014740",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014740",
            "name": "autosomal dominant nonsyndromic deafness caused by mutation in HOMER2",
            "description": ""
        },
        {
            "id": "MONDO:0014740",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014740",
            "name": "autosomal dominant nonsyndromic deafness type 68",
            "description": ""
        },
        {
            "id": "MONDO:0014740",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014740",
            "name": "deafness, autosomal dominant 68",
            "description": ""
        },
        {
            "id": "MONDO:0014740",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014740",
            "name": "deafness, autosomal dominant type 68",
            "description": ""
        },
        {
            "id": "MIM:616707",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616707",
            "name": "Deafness, autosomal dominant, 68",
            "description": "Deafness, autosomal dominant, 68"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110589"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110589",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110589",
            "categories": []
        },
        {
            "id": "MONDO:0014740",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014740",
            "categories": []
        },
        {
            "id": "MIM:616707",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616707",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9QWW1-1",
            "uniprot_ac": "Q9QWW1",
            "uniprot_id": "HOME2_MOUSE",
            "refseq_ac": "NP_001157558",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Homer protein homolog 2",
                    "type": "recommended"
                },
                {
                    "name": "Cupidin",
                    "type": "synonym"
                },
                {
                    "name": "Homer-2",
                    "type": "synonym"
                },
                {
                    "name": "VASP/Ena-related gene up-regulated during seizure and LTP 2",
                    "type": "synonym"
                },
                {
                    "name": "Vesl-2",
                    "type": "synonym"
                },
                {
                    "name": "cupidin",
                    "type": "synonym"
                },
                {
                    "name": "homer homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "homer protein homolog 2 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "homer protein homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "homer, neuronal immediate early gene, 2",
                    "type": "synonym"
                },
                {
                    "name": "homer-2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Homer2",
                    "type": "recommended"
                },
                {
                    "name": "9330120H11Rik",
                    "type": "synonym"
                },
                {
                    "name": "CPD",
                    "type": "synonym"
                },
                {
                    "name": "Homer2",
                    "type": "synonym"
                },
                {
                    "name": "Vesl-2",
                    "type": "synonym"
                },
                {
                    "name": "Vesl2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9QWW1-1",
            "evidence": [
                {
                    "id": "0110589",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110589"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NSB8-1",
            "uniprot_ac": "Q9NSB8",
            "uniprot_id": "HOME2_HUMAN",
            "refseq_ac": "NP_004830",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Homer protein homolog 2",
                    "type": "recommended"
                },
                {
                    "name": "Cupidin",
                    "type": "synonym"
                },
                {
                    "name": "Homer-2",
                    "type": "synonym"
                },
                {
                    "name": "cupidin",
                    "type": "synonym"
                },
                {
                    "name": "homer homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "homer homolog 3",
                    "type": "synonym"
                },
                {
                    "name": "homer protein homolog 2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "homer protein homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "homer scaffolding protein 2",
                    "type": "synonym"
                },
                {
                    "name": "homer, neuronal immediate early gene, 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HOMER2",
                    "type": "recommended"
                },
                {
                    "name": "ACPD",
                    "type": "synonym"
                },
                {
                    "name": "CPD",
                    "type": "synonym"
                },
                {
                    "name": "DFNA68",
                    "type": "synonym"
                },
                {
                    "name": "HOMER-2",
                    "type": "synonym"
                },
                {
                    "name": "HOMER2",
                    "type": "synonym"
                },
                {
                    "name": "VESL-2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NSB8-1",
            "evidence": [
                {
                    "id": "616707",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616707"
                },
                {
                    "id": "0110589",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110589"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O88801-1",
            "uniprot_ac": "O88801",
            "uniprot_id": "HOME2_RAT",
            "refseq_ac": "NP_445761",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Homer protein homolog 2",
                    "type": "recommended"
                },
                {
                    "name": "Cupidin",
                    "type": "synonym"
                },
                {
                    "name": "Homer-2",
                    "type": "synonym"
                },
                {
                    "name": "VASP/Ena-related gene up-regulated during seizure and LTP 2",
                    "type": "synonym"
                },
                {
                    "name": "Vesl-2",
                    "type": "synonym"
                },
                {
                    "name": "cupidin",
                    "type": "synonym"
                },
                {
                    "name": "homer homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "homer protein homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "homer scaffolding protein 2",
                    "type": "synonym"
                },
                {
                    "name": "homer, neuronal immediate early gene, 2",
                    "type": "synonym"
                },
                {
                    "name": "homer-2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Homer2",
                    "type": "recommended"
                },
                {
                    "name": "Homer2",
                    "type": "synonym"
                },
                {
                    "name": "Vesl-2",
                    "type": "synonym"
                },
                {
                    "name": "Vesl2",
                    "type": "synonym"
                }
            ],
            "record_id": "O88801-1",
            "evidence": [
                {
                    "id": "0110589",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110589"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q0E8S7-1",
            "uniprot_ac": "Q0E8S7",
            "uniprot_id": "Q0E8S7_DROME",
            "refseq_ac": "NP_001036341",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG11324-PE",
                    "type": "synonym"
                },
                {
                    "name": "Homer, isoform E",
                    "type": "synonym"
                },
                {
                    "name": "d-Homer",
                    "type": "synonym"
                },
                {
                    "name": "drosophila Ves-1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "homer, isoform E",
                    "type": "synonym"
                },
                {
                    "name": "homer-PE",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "homer",
                    "type": "recommended"
                },
                {
                    "name": "BEST:LD03829",
                    "type": "synonym"
                },
                {
                    "name": "CG11324",
                    "type": "synonym"
                },
                {
                    "name": "Dhomer",
                    "type": "synonym"
                },
                {
                    "name": "Dhom",
                    "type": "synonym"
                },
                {
                    "name": "Dm Homer",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG11324",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG11324",
                    "type": "synonym"
                },
                {
                    "name": "Dvh",
                    "type": "synonym"
                },
                {
                    "name": "Homer",
                    "type": "synonym"
                },
                {
                    "name": "Hom",
                    "type": "synonym"
                },
                {
                    "name": "LD03829",
                    "type": "synonym"
                },
                {
                    "name": "dhom",
                    "type": "synonym"
                },
                {
                    "name": "homer",
                    "type": "synonym"
                }
            ],
            "record_id": "Q0E8S7-1",
            "evidence": [
                {
                    "id": "0110589",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110589"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110589"
}