{
    "disease_id": "DOID:0112008",
    "recommended_name": {
        "id": "DOID:0112008",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112008",
        "name": "pituitary adenoma 5",
        "description": "A pituitary adenoma characterized by development of different types of familial or sporadic pituitary adenomas that has_material_basis_in heterozygous mutation in the CDH23 gene on chromosome 10q22.1."
    },
    "synonyms": [
        {
            "id": "DOID:0112008",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112008",
            "name": "PITA5",
            "description": ""
        },
        {
            "id": "DOID:0112008",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112008",
            "name": "pituitary adenoma 5, multiple types",
            "description": ""
        },
        {
            "id": "MONDO:0054601",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054601",
            "name": "pituitary adenoma 5, multiple types",
            "description": ""
        },
        {
            "id": "MONDO:0054601",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054601",
            "name": "pituitary adenoma 5, multiple types",
            "description": ""
        },
        {
            "id": "MONDO:0054601",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054601",
            "name": "PITA5",
            "description": ""
        },
        {
            "id": "MIM:617540",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617540",
            "name": "Pituitary adenoma 5, multiple types",
            "description": "Pituitary adenoma 5, multiple types"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112008"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112008",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112008",
            "categories": []
        },
        {
            "id": "MONDO:0054601",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054601",
            "categories": []
        },
        {
            "id": "MIM:617540",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617540",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q99PF4-1",
            "uniprot_ac": "Q99PF4",
            "uniprot_id": "CAD23_MOUSE",
            "refseq_ac": "NP_075859",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cadherin-23",
                    "type": "recommended"
                },
                {
                    "name": "Otocadherin",
                    "type": "synonym"
                },
                {
                    "name": "age related hearing loss 1",
                    "type": "synonym"
                },
                {
                    "name": "bobby",
                    "type": "synonym"
                },
                {
                    "name": "bustling",
                    "type": "synonym"
                },
                {
                    "name": "cadherin 23 (otocadherin)",
                    "type": "synonym"
                },
                {
                    "name": "cadherin-23 isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "cadherin-23",
                    "type": "synonym"
                },
                {
                    "name": "modifier of deaf waddler",
                    "type": "synonym"
                },
                {
                    "name": "otocadherin",
                    "type": "synonym"
                },
                {
                    "name": "waltzer",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cdh23",
                    "type": "recommended"
                },
                {
                    "name": "4930542A03Rik",
                    "type": "synonym"
                },
                {
                    "name": "Cdh23",
                    "type": "synonym"
                },
                {
                    "name": "USH1D",
                    "type": "synonym"
                },
                {
                    "name": "ahl1",
                    "type": "synonym"
                },
                {
                    "name": "ahl",
                    "type": "synonym"
                },
                {
                    "name": "bob",
                    "type": "synonym"
                },
                {
                    "name": "bus",
                    "type": "synonym"
                },
                {
                    "name": "mdfw",
                    "type": "synonym"
                },
                {
                    "name": "nmf112",
                    "type": "synonym"
                },
                {
                    "name": "nmf181",
                    "type": "synonym"
                },
                {
                    "name": "nmf252",
                    "type": "synonym"
                },
                {
                    "name": "sals",
                    "type": "synonym"
                },
                {
                    "name": "v",
                    "type": "synonym"
                }
            ],
            "record_id": "Q99PF4-1",
            "evidence": [
                {
                    "id": "0112008",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112008"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9H251-1",
            "uniprot_ac": "Q9H251",
            "uniprot_id": "CAD23_HUMAN",
            "refseq_ac": "NP_001165401",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cadherin-23",
                    "type": "recommended"
                },
                {
                    "name": "Otocadherin",
                    "type": "synonym"
                },
                {
                    "name": "cadherin-23 isoform 3 precursor",
                    "type": "synonym"
                },
                {
                    "name": "cadherin-like 23",
                    "type": "synonym"
                },
                {
                    "name": "cadherin-related family member 23",
                    "type": "synonym"
                },
                {
                    "name": "otocadherin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CDH23",
                    "type": "recommended"
                },
                {
                    "name": "CDH23",
                    "type": "synonym"
                },
                {
                    "name": "CDHR23",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1774",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1812",
                    "type": "synonym"
                },
                {
                    "name": "PITA5",
                    "type": "synonym"
                },
                {
                    "name": "PRO4340",
                    "type": "synonym"
                },
                {
                    "name": "USH1D",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9H251-1",
            "evidence": [
                {
                    "id": "617540",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617540"
                },
                {
                    "id": "0112008",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112008"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P58365-1",
            "uniprot_ac": "P58365",
            "uniprot_id": "CAD23_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": "Cadherin-23",
                    "type": "recommended"
                },
                {
                    "name": "Otocadherin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cdh23",
                    "type": "recommended"
                }
            ],
            "record_id": "P58365-1",
            "evidence": [
                {
                    "id": "0112008",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112008"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VGG5-1",
            "uniprot_ac": "Q9VGG5",
            "uniprot_id": "CAD87_DROME",
            "refseq_ac": "NP_731649",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cadherin-87A",
                    "type": "recommended"
                },
                {
                    "name": "CG6977-PA",
                    "type": "synonym"
                },
                {
                    "name": "Cad87A-PA",
                    "type": "synonym"
                },
                {
                    "name": "cadherin 87A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cad87A",
                    "type": "recommended"
                },
                {
                    "name": "CG6977",
                    "type": "synonym"
                },
                {
                    "name": "CT21611",
                    "type": "synonym"
                },
                {
                    "name": "Cad87A",
                    "type": "synonym"
                },
                {
                    "name": "Cad87",
                    "type": "synonym"
                },
                {
                    "name": "DCad87A",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6977",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VGG5-1",
            "evidence": [
                {
                    "id": "0112008",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112008"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112008"
}
