{
    "disease_id": "DOID:0111738",
    "recommended_name": {
        "id": "DOID:0111738",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111738",
        "name": "X-linked deafness 7",
        "description": "An X-linked nonsyndromic deafness characterized by congenital, bilateral, mixed or conductive hearing loss and other ear anomalies that has_material_basis_in homozygous or hemizygous mutation in the GPRASP2 gene on chromosome Xq22.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111738",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111738",
            "name": "DFNX7",
            "description": ""
        },
        {
            "id": "DOID:0111738",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111738",
            "name": "X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0044702",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044702",
            "name": "X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0044702",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044702",
            "name": "DFNX7",
            "description": ""
        },
        {
            "id": "MONDO:0044702",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044702",
            "name": "deafness, X-linked 7",
            "description": ""
        },
        {
            "id": "MONDO:0044702",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044702",
            "name": "deafness, X-linked 7, X-linked recessive",
            "description": ""
        },
        {
            "id": "MIM:301018",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/301018",
            "name": "Deafness, X-linked, 7",
            "description": "Deafness, X-linked, 7"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111738"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111738",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111738",
            "categories": []
        },
        {
            "id": "MONDO:0044702",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044702",
            "categories": []
        },
        {
            "id": "MIM:301018",
            "database": "MIM",
            "url": "https://www.omim.org/entry/301018",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8BUY8-1",
            "uniprot_ac": "Q8BUY8",
            "uniprot_id": "GASP2_MOUSE",
            "refseq_ac": "NP_001156487",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "G protein-coupled receptor-associated sorting protein 2",
                    "type": "recommended"
                },
                {
                    "name": "G-protein coupled receptor-associated sorting protein 2",
                    "type": "synonym"
                },
                {
                    "name": "GASP-2",
                    "type": "synonym"
                },
                {
                    "name": "prion protein ligand 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gprasp2",
                    "type": "recommended"
                },
                {
                    "name": "5330440H13Rik",
                    "type": "synonym"
                },
                {
                    "name": "GASP-2",
                    "type": "synonym"
                },
                {
                    "name": "GASP2",
                    "type": "synonym"
                },
                {
                    "name": "Gprasp2",
                    "type": "synonym"
                },
                {
                    "name": "Prpl5",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BUY8-1",
            "evidence": [
                {
                    "id": "0111738",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111738"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96D09-1",
            "uniprot_ac": "Q96D09",
            "uniprot_id": "GASP2_HUMAN",
            "refseq_ac": "NP_001004051",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "G protein-coupled receptor-associated sorting protein 2",
                    "type": "recommended"
                },
                {
                    "name": "G-protein coupled receptor-associated sorting protein 2",
                    "type": "synonym"
                },
                {
                    "name": "GASP-2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GPRASP2",
                    "type": "recommended"
                },
                {
                    "name": "DFNX7",
                    "type": "synonym"
                },
                {
                    "name": "GASP2",
                    "type": "synonym"
                },
                {
                    "name": "GPRASP2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96D09-1",
            "evidence": [
                {
                    "id": "301018",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/301018"
                },
                {
                    "id": "0111738",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111738"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4A542-1",
            "uniprot_ac": "D4A542",
            "uniprot_id": "D4A542_RAT",
            "refseq_ac": "NP_001388086",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "G protein-coupled receptor associated sorting protein 2",
                    "type": "synonym"
                },
                {
                    "name": "G-protein coupled receptor-associated sorting protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gprasp2",
                    "type": "recommended"
                },
                {
                    "name": "Gprasp2",
                    "type": "synonym"
                },
                {
                    "name": "RGD1561019",
                    "type": "synonym"
                }
            ],
            "record_id": "D4A542-1",
            "evidence": [
                {
                    "id": "0111738",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111738"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111738"
}