{
    "disease_id": "DOID:0111635",
    "recommended_name": {
        "id": "DOID:0111635",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111635",
        "name": "autosomal recessive nonsyndromic deafness 57",
        "description": "An autosomal recessive nonsyndromic deafness characterized by symmetric bilateral moderate to severe hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the PDZD7 gene on chromosome 10q24.31."
    },
    "synonyms": [
        {
            "id": "DOID:0111635",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111635",
            "name": "DFNB57",
            "description": ""
        },
        {
            "id": "DOID:0111635",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111635",
            "name": "autosomal recessive deafness 57",
            "description": ""
        },
        {
            "id": "MONDO:0033201",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033201",
            "name": "hearing loss, autosomal recessive 57",
            "description": ""
        },
        {
            "id": "MONDO:0033201",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033201",
            "name": "hearing loss, autosomal recessive 57",
            "description": ""
        },
        {
            "id": "MONDO:0033201",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033201",
            "name": "DFNB57",
            "description": ""
        },
        {
            "id": "MONDO:0033201",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033201",
            "name": "deafness, autosomal recessive 57",
            "description": ""
        },
        {
            "id": "MIM:618003",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618003",
            "name": "Deafness, autosomal recessive, 57",
            "description": "Deafness, autosomal recessive, 57"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111635"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111635",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111635",
            "categories": []
        },
        {
            "id": "MONDO:0033201",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033201",
            "categories": []
        },
        {
            "id": "MIM:618003",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618003",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M3AYZ6-1",
            "uniprot_ac": "A0A8M3AYZ6",
            "uniprot_id": "A0A8M3AYZ6_DANRE",
            "refseq_ac": "XP_009298981",
            "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 7 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "pdzd7b",
                    "type": "recommended"
                },
                {
                    "name": "pdzd7b",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M3AYZ6-1",
            "evidence": [
                {
                    "id": "0111635",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111635"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "E9Q9W7-1",
            "uniprot_ac": "E9Q9W7",
            "uniprot_id": "PDZD7_MOUSE",
            "refseq_ac": "NP_001182194",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "PDZ domain-containing protein 7",
                    "type": "recommended"
                },
                {
                    "name": "PDZ domain-containing protein 7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pdzd7",
                    "type": "recommended"
                },
                {
                    "name": "9130207N01",
                    "type": "synonym"
                },
                {
                    "name": "EG435601",
                    "type": "synonym"
                },
                {
                    "name": "Pdzd7",
                    "type": "synonym"
                },
                {
                    "name": "Pdzk7",
                    "type": "synonym"
                }
            ],
            "record_id": "E9Q9W7-1",
            "evidence": [
                {
                    "id": "0111635",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111635"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9H5P4-3",
            "uniprot_ac": "Q9H5P4",
            "uniprot_id": "PDZD7_HUMAN",
            "refseq_ac": "NP_001182192",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "PDZ domain-containing protein 7",
                    "type": "recommended"
                },
                {
                    "name": "PDZ domain-containing protein 7 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "PDZ domain-containing protein 7",
                    "type": "synonym"
                },
                {
                    "name": "deafness, autosomal recessive 57",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PDZD7",
                    "type": "recommended"
                },
                {
                    "name": "DFNB57",
                    "type": "synonym"
                },
                {
                    "name": "PDZD7",
                    "type": "synonym"
                },
                {
                    "name": "PDZK7",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9H5P4-3",
            "evidence": [
                {
                    "id": "618003",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618003"
                },
                {
                    "id": "0111635",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111635"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4AAZ9-1",
            "uniprot_ac": "D4AAZ9",
            "uniprot_id": "D4AAZ9_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": "PDZ domain-containing protein 7",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Pdzd7",
                    "type": "recommended"
                },
                {
                    "name": "LOC681677",
                    "type": "synonym"
                }
            ],
            "record_id": "D4AAZ9-1",
            "evidence": [
                {
                    "id": "0111635",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111635"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111635"
}