{
    "disease_id": "DOID:0081060",
    "recommended_name": {
        "id": "DOID:0081060",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081060",
        "name": "X-linked nephrogenic diabetes insipidus",
        "description": "A nephrogenic diabetes insipidus that is characterized by the inability of the renal collecting ducts to absorb water in response to antidiuretic hormone and that has_material_basis_in a mutation in the gene encoding the vasopressin V2 receptor (AVPR2) on chromosome Xq28."
    },
    "synonyms": [
        {
            "id": "DOID:0081060",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081060",
            "name": "nephrogenic diabetes insipidus type 1",
            "description": ""
        },
        {
            "id": "MONDO:0010581",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010581",
            "name": "diabetes insipidus, nephrogenic, X-linked",
            "description": ""
        },
        {
            "id": "MONDO:0010581",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010581",
            "name": "diabetes insipidus, nephrogenic, 1, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010581",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010581",
            "name": "diabetes insipidus, nephrogenic, X-linked",
            "description": ""
        },
        {
            "id": "MIM:304800",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/304800",
            "name": "Diabetes insipidus, nephrogenic, 1, X-linked",
            "description": "Diabetes insipidus, nephrogenic, 1, X-linked"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081060"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081060",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081060",
            "categories": []
        },
        {
            "id": "MONDO:0010581",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010581",
            "categories": []
        },
        {
            "id": "MIM:304800",
            "database": "MIM",
            "url": "https://www.omim.org/entry/304800",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1QV55-1",
            "uniprot_ac": "A0A8M1QV55",
            "uniprot_id": "A0A8M1QV55_DANRE",
            "refseq_ac": "XP_001922042",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Vasopressin V2 receptor isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "vasopressin V2 receptor isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "avpr2ab",
                    "type": "recommended"
                },
                {
                    "name": "avpr2ab",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1QV55-1",
            "evidence": [
                {
                    "id": "0081060",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081060"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O88721-1",
            "uniprot_ac": "O88721",
            "uniprot_id": "V2R_MOUSE",
            "refseq_ac": "NP_062277",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Vasopressin V2 receptor",
                    "type": "recommended"
                },
                {
                    "name": "AVPR V2",
                    "type": "synonym"
                },
                {
                    "name": "Antidiuretic hormone receptor",
                    "type": "synonym"
                },
                {
                    "name": "Renal-type arginine vasopressin receptor",
                    "type": "synonym"
                },
                {
                    "name": "V2R",
                    "type": "synonym"
                },
                {
                    "name": "antidiuretic hormone receptor",
                    "type": "synonym"
                },
                {
                    "name": "nephrogenic diabetes insipidus",
                    "type": "synonym"
                },
                {
                    "name": "renal-type arginine vasopressin receptor",
                    "type": "synonym"
                },
                {
                    "name": "vasopressin V2 receptor isoform a",
                    "type": "synonym"
                },
                {
                    "name": "vasopressin V2 receptor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Avpr2",
                    "type": "recommended"
                },
                {
                    "name": "ADHR",
                    "type": "synonym"
                },
                {
                    "name": "Avpr2",
                    "type": "synonym"
                },
                {
                    "name": "DI1",
                    "type": "synonym"
                },
                {
                    "name": "DIR",
                    "type": "synonym"
                },
                {
                    "name": "ND1",
                    "type": "synonym"
                },
                {
                    "name": "V2R",
                    "type": "synonym"
                },
                {
                    "name": "V2r",
                    "type": "synonym"
                },
                {
                    "name": "VPV2R",
                    "type": "synonym"
                }
            ],
            "record_id": "O88721-1",
            "evidence": [
                {
                    "id": "0081060",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081060"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P30518-1",
            "uniprot_ac": "P30518",
            "uniprot_id": "V2R_HUMAN",
            "refseq_ac": "NP_000045",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Vasopressin V2 receptor",
                    "type": "recommended"
                },
                {
                    "name": "AVPR V2",
                    "type": "synonym"
                },
                {
                    "name": "Antidiuretic hormone receptor",
                    "type": "synonym"
                },
                {
                    "name": "Renal-type arginine vasopressin receptor",
                    "type": "synonym"
                },
                {
                    "name": "V2R",
                    "type": "synonym"
                },
                {
                    "name": "antidiuretic hormone receptor",
                    "type": "synonym"
                },
                {
                    "name": "renal-type arginine vasopressin receptor",
                    "type": "synonym"
                },
                {
                    "name": "vasopressin V2 receptor isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "vasopressin V2 receptor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "AVPR2",
                    "type": "recommended"
                },
                {
                    "name": "ADHR",
                    "type": "synonym"
                },
                {
                    "name": "AVPR2",
                    "type": "synonym"
                },
                {
                    "name": "DI1",
                    "type": "synonym"
                },
                {
                    "name": "DIR3",
                    "type": "synonym"
                },
                {
                    "name": "DIR",
                    "type": "synonym"
                },
                {
                    "name": "NDI1",
                    "type": "synonym"
                },
                {
                    "name": "NDI",
                    "type": "synonym"
                },
                {
                    "name": "V2R",
                    "type": "synonym"
                }
            ],
            "record_id": "P30518-1",
            "evidence": [
                {
                    "id": "304800",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/304800"
                },
                {
                    "id": "0081060",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081060"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q00788-1",
            "uniprot_ac": "Q00788",
            "uniprot_id": "V2R_RAT",
            "refseq_ac": "NP_062009",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Vasopressin V2 receptor",
                    "type": "recommended"
                },
                {
                    "name": "AVPR V2",
                    "type": "synonym"
                },
                {
                    "name": "Antidiuretic hormone receptor",
                    "type": "synonym"
                },
                {
                    "name": "Renal-type arginine vasopressin receptor",
                    "type": "synonym"
                },
                {
                    "name": "V2R",
                    "type": "synonym"
                },
                {
                    "name": "Vasopressin receptor V2",
                    "type": "synonym"
                },
                {
                    "name": "antidiuretic hormone receptor",
                    "type": "synonym"
                },
                {
                    "name": "renal-type arginine vasopressin receptor",
                    "type": "synonym"
                },
                {
                    "name": "vasopressin V2 receptor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Avpr2",
                    "type": "recommended"
                },
                {
                    "name": "Avpr2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q00788-1",
            "evidence": [
                {
                    "id": "0081060",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081060"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P12107-1",
            "uniprot_ac": "P12107",
            "uniprot_id": "COBA1_HUMAN",
            "refseq_ac": "NP_001177638",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Collagen alpha-1(XI) chain",
                    "type": "recommended"
                },
                {
                    "name": "collagen XI, alpha-1 polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-1(XI) chain isoform E preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-1(XI) chain",
                    "type": "synonym"
                },
                {
                    "name": "collagen, type XI, alpha 1",
                    "type": "synonym"
                },
                {
                    "name": "deafness, autosomal dominant 37",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "COL11A1",
                    "type": "recommended"
                },
                {
                    "name": "CO11A1",
                    "type": "synonym"
                },
                {
                    "name": "COL11A1",
                    "type": "synonym"
                },
                {
                    "name": "COLL6",
                    "type": "synonym"
                },
                {
                    "name": "DFNA37",
                    "type": "synonym"
                },
                {
                    "name": "STL2",
                    "type": "synonym"
                }
            ],
            "record_id": "P12107-1",
            "evidence": [
                {
                    "id": "0081060",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081060"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081060"
}