{
    "disease_id": "DOID:0081061",
    "recommended_name": {
        "id": "DOID:0081061",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081061",
        "name": "nephrogenic diabetes insipidus type 2",
        "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 heterozygous, homozygous, or compound heterozygous mutation in the gene encoding the aquaporin-2 water channel (AQP2), which maps to chromosome 12q13."
    },
    "synonyms": [
        {
            "id": "DOID:0081061",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081061",
            "name": "autosomal nephrogenic diabetes insipidus-2",
            "description": ""
        },
        {
            "id": "MONDO:0007451",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007451",
            "name": "diabetes insipidus, nephrogenic, autosomal",
            "description": ""
        },
        {
            "id": "MONDO:0007451",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007451",
            "name": "diabetes insipidus, nephrogenic, 2",
            "description": ""
        },
        {
            "id": "MONDO:0007451",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007451",
            "name": "diabetes insipidus, nephrogenic, autosomal",
            "description": ""
        },
        {
            "id": "MIM:125800",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/125800",
            "name": "Diabetes insipidus, nephrogenic, 2, autosomal",
            "description": "Diabetes insipidus, nephrogenic, 2, autosomal"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081061"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081061",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081061",
            "categories": []
        },
        {
            "id": "MONDO:0007451",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007451",
            "categories": []
        },
        {
            "id": "MIM:125800",
            "database": "MIM",
            "url": "https://www.omim.org/entry/125800",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P56402-1",
            "uniprot_ac": "P56402",
            "uniprot_id": "AQP2_MOUSE",
            "refseq_ac": "NP_033829",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Aquaporin-2",
                    "type": "recommended"
                },
                {
                    "name": "ADH water channel",
                    "type": "synonym"
                },
                {
                    "name": "AQP-2",
                    "type": "synonym"
                },
                {
                    "name": "AQP-CD",
                    "type": "synonym"
                },
                {
                    "name": "Aquaporin-CD",
                    "type": "synonym"
                },
                {
                    "name": "Collecting duct water channel protein",
                    "type": "synonym"
                },
                {
                    "name": "WCH-CD",
                    "type": "synonym"
                },
                {
                    "name": "Water channel protein for renal collecting duct",
                    "type": "synonym"
                },
                {
                    "name": "aquaporin-2",
                    "type": "synonym"
                },
                {
                    "name": "aquaporin-CD",
                    "type": "synonym"
                },
                {
                    "name": "collecting duct water channel protein",
                    "type": "synonym"
                },
                {
                    "name": "water channel protein for renal collecting duct",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Aqp2",
                    "type": "recommended"
                },
                {
                    "name": "AQP-CD",
                    "type": "synonym"
                },
                {
                    "name": "Aqp2",
                    "type": "synonym"
                },
                {
                    "name": "WCH-CD",
                    "type": "synonym"
                },
                {
                    "name": "cph",
                    "type": "synonym"
                },
                {
                    "name": "jpk",
                    "type": "synonym"
                }
            ],
            "record_id": "P56402-1",
            "evidence": [
                {
                    "id": "0081061",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081061"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P41181-1",
            "uniprot_ac": "P41181",
            "uniprot_id": "AQP2_HUMAN",
            "refseq_ac": "NP_000477",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Aquaporin-2",
                    "type": "recommended"
                },
                {
                    "name": "ADH water channel",
                    "type": "synonym"
                },
                {
                    "name": "AQP-2",
                    "type": "synonym"
                },
                {
                    "name": "AQP-CD",
                    "type": "synonym"
                },
                {
                    "name": "Aquaporin-CD",
                    "type": "synonym"
                },
                {
                    "name": "Collecting duct water channel protein",
                    "type": "synonym"
                },
                {
                    "name": "WCH-CD",
                    "type": "synonym"
                },
                {
                    "name": "Water channel protein for renal collecting duct",
                    "type": "synonym"
                },
                {
                    "name": "aquaporin 2 (collecting duct)",
                    "type": "synonym"
                },
                {
                    "name": "aquaporin-2",
                    "type": "synonym"
                },
                {
                    "name": "aquaporin-CD",
                    "type": "synonym"
                },
                {
                    "name": "collecting duct water channel protein",
                    "type": "synonym"
                },
                {
                    "name": "water channel protein for renal collecting duct",
                    "type": "synonym"
                },
                {
                    "name": "water-channel aquaporin 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "AQP2",
                    "type": "recommended"
                },
                {
                    "name": "AQP-2",
                    "type": "synonym"
                },
                {
                    "name": "AQP-CD",
                    "type": "synonym"
                },
                {
                    "name": "AQP2",
                    "type": "synonym"
                },
                {
                    "name": "NDI2",
                    "type": "synonym"
                },
                {
                    "name": "WCH-CD",
                    "type": "synonym"
                }
            ],
            "record_id": "P41181-1",
            "evidence": [
                {
                    "id": "125800",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/125800"
                },
                {
                    "id": "0081061",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081061"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P0CD91-1",
            "uniprot_ac": "P0CD91",
            "uniprot_id": "AQY1_YEAST",
            "refseq_ac": "NP_015518",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Aquaporin-1",
                    "type": "recommended"
                },
                {
                    "name": "Aqy1p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "AQY1",
                    "type": "recommended"
                },
                {
                    "name": "AQY1-2",
                    "type": "synonym"
                },
                {
                    "name": "AQY1",
                    "type": "synonym"
                },
                {
                    "name": "P9677.5",
                    "type": "synonym"
                }
            ],
            "record_id": "P0CD91-1",
            "evidence": [
                {
                    "id": "0081061",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081061"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P0CD98-1",
            "uniprot_ac": "P0CD98",
            "uniprot_id": "YLL53_YEAST",
            "refseq_ac": "NP_013047",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Putative uncharacterized protein YLL053C",
                    "type": "recommended"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "L0587",
                    "type": "synonym"
                }
            ],
            "record_id": "P0CD98-1",
            "evidence": [
                {
                    "id": "0081061",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081061"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P34080-1",
            "uniprot_ac": "P34080",
            "uniprot_id": "AQP2_RAT",
            "refseq_ac": "NP_037041",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Aquaporin-2",
                    "type": "recommended"
                },
                {
                    "name": "ADH water channel",
                    "type": "synonym"
                },
                {
                    "name": "AQP-2",
                    "type": "synonym"
                },
                {
                    "name": "AQP-CD",
                    "type": "synonym"
                },
                {
                    "name": "Aquaporin-CD",
                    "type": "synonym"
                },
                {
                    "name": "Collecting duct water channel protein",
                    "type": "synonym"
                },
                {
                    "name": "WCH-CD",
                    "type": "synonym"
                },
                {
                    "name": "Water channel protein for renal collecting duct",
                    "type": "synonym"
                },
                {
                    "name": "aquaporin 2 (collecting duct)",
                    "type": "synonym"
                },
                {
                    "name": "aquaporin-2",
                    "type": "synonym"
                },
                {
                    "name": "aquaporin-CD",
                    "type": "synonym"
                },
                {
                    "name": "collecting duct water channel protein",
                    "type": "synonym"
                },
                {
                    "name": "water channel protein for renal collecting duct",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Aqp2",
                    "type": "recommended"
                },
                {
                    "name": "AQP-2",
                    "type": "synonym"
                },
                {
                    "name": "Aqp2",
                    "type": "synonym"
                },
                {
                    "name": "aquaporin-2",
                    "type": "synonym"
                }
            ],
            "record_id": "P34080-1",
            "evidence": [
                {
                    "id": "0081061",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081061"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0C4DHF9-1",
            "uniprot_ac": "A0A0C4DHF9",
            "uniprot_id": "A0A0C4DHF9_DROME",
            "refseq_ac": "NP_788433",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG17664-PC",
                    "type": "synonym"
                },
                {
                    "name": "Eglp2-PC",
                    "type": "synonym"
                },
                {
                    "name": "Entomoglyceroporin 2, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "entomoglyceroporin 2, isoform C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Eglp2",
                    "type": "recommended"
                },
                {
                    "name": "Aqp17664",
                    "type": "synonym"
                },
                {
                    "name": "CG17664",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG17664",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG17664",
                    "type": "synonym"
                },
                {
                    "name": "Eglp 2",
                    "type": "synonym"
                },
                {
                    "name": "Eglp2",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0C4DHF9-1",
            "evidence": [
                {
                    "id": "0081061",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081061"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9V5Z7-1",
            "uniprot_ac": "Q9V5Z7",
            "uniprot_id": "AQP_DROME",
            "refseq_ac": "NP_523697",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Aquaporin",
                    "type": "recommended"
                },
                {
                    "name": "CG9023-PB",
                    "type": "synonym"
                },
                {
                    "name": "Drip-PB",
                    "type": "synonym"
                },
                {
                    "name": "aquaporin",
                    "type": "synonym"
                },
                {
                    "name": "drip, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "drosophila integral protein",
                    "type": "synonym"
                },
                {
                    "name": "transcript group I",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Drip",
                    "type": "recommended"
                },
                {
                    "name": "CG9023",
                    "type": "synonym"
                },
                {
                    "name": "DRIP",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9023",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG9023",
                    "type": "synonym"
                },
                {
                    "name": "Drip",
                    "type": "synonym"
                },
                {
                    "name": "I",
                    "type": "synonym"
                },
                {
                    "name": "anon-48Aa",
                    "type": "synonym"
                },
                {
                    "name": "drip",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9V5Z7-1",
            "evidence": [
                {
                    "id": "0081061",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081061"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W1M4-1",
            "uniprot_ac": "Q9W1M4",
            "uniprot_id": "Q9W1M4_DROME",
            "refseq_ac": "NP_611810",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG5398-PA",
                    "type": "synonym"
                },
                {
                    "name": "Eglp1-PA",
                    "type": "synonym"
                },
                {
                    "name": "Entomoglyceroporin 1",
                    "type": "synonym"
                },
                {
                    "name": "entomoglyceroporin 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Eglp1",
                    "type": "recommended"
                },
                {
                    "name": "Aqp5398",
                    "type": "synonym"
                },
                {
                    "name": "CG5398",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5398",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG5398",
                    "type": "synonym"
                },
                {
                    "name": "Eglp 1",
                    "type": "synonym"
                },
                {
                    "name": "Eglp1",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0140519.151",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W1M4-1",
            "evidence": [
                {
                    "id": "0081061",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081061"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0B4KFZ1-1",
            "uniprot_ac": "A0A0B4KFZ1",
            "uniprot_id": "A0A0B4KFZ1_DROME",
            "refseq_ac": "NP_001261154",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG4019-PF",
                    "type": "synonym"
                },
                {
                    "name": "Eglp4-PF",
                    "type": "synonym"
                },
                {
                    "name": "Entomoglyceroporin 4, isoform F",
                    "type": "synonym"
                },
                {
                    "name": "entomoglyceroporin 4, isoform F",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Eglp4",
                    "type": "recommended"
                },
                {
                    "name": "Aqp4019",
                    "type": "synonym"
                },
                {
                    "name": "CG4019",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4019",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG4019",
                    "type": "synonym"
                },
                {
                    "name": "Eglp 4",
                    "type": "synonym"
                },
                {
                    "name": "Eglp4",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0B4KFZ1-1",
            "evidence": [
                {
                    "id": "0081061",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081061"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081061"
}