{
    "disease_id": "DOID:0112121",
    "recommended_name": {
        "id": "DOID:0112121",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112121",
        "name": "nephrogenic syndrome of inappropriate antidiuresis",
        "description": "A renal tubular transport disease characterized by inappropriate antidiuretic hormone secretion resulting in inability to excrete a free water load, inappropriately concentrated urine, and undetectable or low plasma arginine vasopressin levels that has_material_basis_in hemizygous gain-of-function mutation in the AVPR2 gene on chromosome Xq28."
    },
    "synonyms": [
        {
            "id": "DOID:0112121",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112121",
            "name": "NSIAD",
            "description": ""
        },
        {
            "id": "MONDO:0010356",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010356",
            "name": "nephrogenic syndrome of inappropriate antidiuresis",
            "description": "Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is a rare genetic disorder of water balance, closely resembling the far more frequent syndrome of inappropriate antidiuretic secretion (SIAD), and characterized by euvolemic hypotonic hyponatremia due to impaired free water excretion and undetectable or low plasma arginine vasopressin (AVP) levels."
        },
        {
            "id": "MONDO:0010356",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010356",
            "name": "NSIAD",
            "description": ""
        },
        {
            "id": "MONDO:0010356",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010356",
            "name": "nephrogenic syndrome of inappropriate antidiuresis",
            "description": ""
        },
        {
            "id": "MONDO:0010356",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010356",
            "name": "nephrogenic syndrome of inappropriate antidiuresis, X-linked recessive",
            "description": ""
        },
        {
            "id": "MIM:300539",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300539",
            "name": "Nephrogenic syndrome of inappropriate antidiuresis",
            "description": "Nephrogenic syndrome of inappropriate antidiuresis"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112121"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112121",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112121",
            "categories": []
        },
        {
            "id": "MONDO:0010356",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010356",
            "categories": []
        },
        {
            "id": "MIM:300539",
            "database": "MIM",
            "url": "https://www.omim.org/entry/300539",
            "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": "0112121",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112121"
                }
            ]
        },
        {
            "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": "0112121",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112121"
                }
            ]
        },
        {
            "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": "300539",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/300539"
                },
                {
                    "id": "0112121",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112121"
                }
            ]
        },
        {
            "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": "0112121",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112121"
                }
            ]
        },
        {
            "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": "0112121",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112121"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112121"
}