{
    "disease_id": "DOID:0060062",
    "recommended_name": {
        "id": "DOID:0060062",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060062",
        "name": "autosomal dominant tubulointerstitial kidney disease",
        "description": "A kidney disease that is characterized by normal urinalysis and slowly progressive chronic kidney disease, usually first noted in the teen years and progressing to end-stage renal disease between the third and seventh decades."
    },
    "synonyms": [
        {
            "id": "DOID:0060062",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060062",
            "name": "familial juvenile hyperuricemic nephropathy",
            "description": ""
        },
        {
            "id": "DOID:0060062",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060062",
            "name": "HNFJ",
            "description": ""
        },
        {
            "id": "DOID:0060062",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060062",
            "name": "MCKD",
            "description": ""
        },
        {
            "id": "DOID:0060062",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060062",
            "name": "medullary cystic kidney disease",
            "description": ""
        },
        {
            "id": "MONDO:0008073",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008073",
            "name": "familial juvenile hyperuricemic nephropathy type 1",
            "description": "A rare kidney disorder characterized by hyperuricemia, progressive nephropathy, and gout occurring at an early age."
        },
        {
            "id": "MONDO:0008073",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008073",
            "name": "familial juvenile gouty nephropathy",
            "description": ""
        },
        {
            "id": "MONDO:0008073",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008073",
            "name": "familial nephropathy with gout",
            "description": ""
        },
        {
            "id": "MONDO:0008073",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008073",
            "name": "gouty nephropathy, familial juvenile",
            "description": ""
        },
        {
            "id": "MONDO:0008073",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008073",
            "name": "hyperuricemic nephropathy, familial juvenile",
            "description": ""
        },
        {
            "id": "MONDO:0008073",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008073",
            "name": "nephropathy, familial, with gout",
            "description": ""
        },
        {
            "id": "MONDO:0008073",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008073",
            "name": "ADTKD-UMOD",
            "description": ""
        },
        {
            "id": "MONDO:0008073",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008073",
            "name": "Autosomal Dominant Tubulo-Interstitial Kidney Disease",
            "description": ""
        },
        {
            "id": "MONDO:0008073",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008073",
            "name": "FJHN type 1",
            "description": ""
        },
        {
            "id": "MONDO:0008073",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008073",
            "name": "HNFJ1",
            "description": ""
        },
        {
            "id": "MONDO:0008073",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008073",
            "name": "UMOD familial juvenile hyperuricemic nephropathy",
            "description": ""
        },
        {
            "id": "MONDO:0008073",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008073",
            "name": "UMOD-associated FJHN",
            "description": ""
        },
        {
            "id": "MONDO:0008073",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008073",
            "name": "UMOD-associated familial juvenile hyperuricemic nephropathy",
            "description": ""
        },
        {
            "id": "MONDO:0008073",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008073",
            "name": "UMOD-related ADTKD",
            "description": ""
        },
        {
            "id": "MONDO:0008073",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008073",
            "name": "UMOD-related kidney disease",
            "description": ""
        },
        {
            "id": "MONDO:0008073",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008073",
            "name": "autosomal dominant medullary cystic kidney disease type 2",
            "description": ""
        },
        {
            "id": "MONDO:0008073",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008073",
            "name": "autosomal dominant medullary cystic kidney disease with hyperuricemia",
            "description": ""
        },
        {
            "id": "MONDO:0008073",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008073",
            "name": "autosomal dominant tubulointerstitial kidney disease - UMOD",
            "description": ""
        },
        {
            "id": "MONDO:0008073",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008073",
            "name": "autosomal dominant tubulointerstitial kidney disease due to mutations in UMOD",
            "description": ""
        },
        {
            "id": "MONDO:0008073",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008073",
            "name": "familial juvenile hyperuricemic nephropathy caused by mutation in UMOD",
            "description": ""
        },
        {
            "id": "MONDO:0008073",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008073",
            "name": "glomerulocystic kidney disease with hyperuricemia and isosthenuria",
            "description": ""
        },
        {
            "id": "MONDO:0008073",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008073",
            "name": "hyperuricemic nephropathy, familial juvenile, 1",
            "description": ""
        },
        {
            "id": "MONDO:0008073",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008073",
            "name": "hyperuricemic nephropathy, familial juvenile, type 1",
            "description": ""
        },
        {
            "id": "MONDO:0008073",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008073",
            "name": "medullary cystic kidney disease 2",
            "description": ""
        },
        {
            "id": "MONDO:0008073",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008073",
            "name": "medullary cystic kidney disease type 2",
            "description": ""
        },
        {
            "id": "MONDO:0008073",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008073",
            "name": "medullary cystic kidney disease type II",
            "description": ""
        },
        {
            "id": "MONDO:0008073",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008073",
            "name": "tubulointerstitial kidney disease, autosomal dominant, 1",
            "description": ""
        },
        {
            "id": "MONDO:0008073",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008073",
            "name": "uromodulin storage disease",
            "description": ""
        },
        {
            "id": "MONDO:0008073",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008073",
            "name": "uromodulin-associated kidney disease",
            "description": ""
        },
        {
            "id": "MONDO:0008073",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008073",
            "name": "ADMCKD2",
            "description": ""
        },
        {
            "id": "MONDO:0008073",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008073",
            "name": "MCKD2",
            "description": ""
        },
        {
            "id": "MONDO:0008073",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008073",
            "name": "familial juvenile hyperuricaemic nephropathy",
            "description": ""
        },
        {
            "id": "MIM:162000",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/162000",
            "name": "Tubulointerstitial kidney disease, autosomal dominant 1",
            "description": "Tubulointerstitial kidney disease, autosomal dominant 1"
        }
    ],
    "children": [
        {
            "id": "DOID:0061118",
            "label": "autosomal dominant tubulointerstitial kidney disease 2",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0061119",
            "label": "autosomal dominant tubulointerstitial kidney disease 4",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0061120",
            "label": "autosomal dominant tubulointerstitial kidney disease 5",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0061121",
            "label": "autosomal dominant tubulointerstitial kidney disease 6",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0061122",
            "label": "autosomal dominant tubulointerstitial kidney disease 1",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111101",
            "label": "renal cysts and diabetes syndrome",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0111101",
        "DOID:0061118",
        "DOID:0061120",
        "DOID:0060062",
        "DOID:0061119",
        "DOID:0061122",
        "DOID:0061121"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060062",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060062",
            "categories": []
        },
        {
            "id": "MONDO:0008073",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008073",
            "categories": []
        },
        {
            "id": "MIM:162000",
            "database": "MIM",
            "url": "https://www.omim.org/entry/162000",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "X1WE05-1",
            "uniprot_ac": "X1WE05",
            "uniprot_id": "X1WE05_DANRE",
            "refseq_ac": "XP_017214057",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Pancreatic secretory granule membrane major glycoprotein GP2-like isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "pancreatic secretory granule membrane major glycoprotein GP2-like isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "si:dkey-239b22.2",
                    "type": "recommended"
                },
                {
                    "name": "si:dkey-239b22.2",
                    "type": "synonym"
                }
            ],
            "record_id": "X1WE05-1",
            "evidence": [
                {
                    "id": "0060062",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060062"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q91X17-1",
            "uniprot_ac": "Q91X17",
            "uniprot_id": "UROM_MOUSE",
            "refseq_ac": "NP_001265534",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Uromodulin",
                    "type": "recommended"
                },
                {
                    "name": "THP",
                    "type": "synonym"
                },
                {
                    "name": "Tamm-Horsfall urinary glycoprotein",
                    "type": "synonym"
                },
                {
                    "name": "uromodulin preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "uromucoid",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Umod",
                    "type": "recommended"
                },
                {
                    "name": "THP",
                    "type": "synonym"
                },
                {
                    "name": "Umod",
                    "type": "synonym"
                },
                {
                    "name": "Urehd1",
                    "type": "synonym"
                },
                {
                    "name": "urehr4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q91X17-1",
            "evidence": [
                {
                    "id": "0060062",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060062"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P07911-1",
            "uniprot_ac": "P07911",
            "uniprot_id": "UROM_HUMAN",
            "refseq_ac": "NP_001008390",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Uromodulin",
                    "type": "recommended"
                },
                {
                    "name": "THP",
                    "type": "synonym"
                },
                {
                    "name": "Tamm-Horsfall urinary glycoprotein",
                    "type": "synonym"
                },
                {
                    "name": "uromodulin isoform a preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "uromucoid",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "UMOD",
                    "type": "recommended"
                },
                {
                    "name": "ADMCKD2",
                    "type": "synonym"
                },
                {
                    "name": "ADTKD1",
                    "type": "synonym"
                },
                {
                    "name": "FJHN",
                    "type": "synonym"
                },
                {
                    "name": "HNFJ1",
                    "type": "synonym"
                },
                {
                    "name": "HNFJ",
                    "type": "synonym"
                },
                {
                    "name": "MCKD2",
                    "type": "synonym"
                },
                {
                    "name": "THGP",
                    "type": "synonym"
                },
                {
                    "name": "THP",
                    "type": "synonym"
                },
                {
                    "name": "UMOD",
                    "type": "synonym"
                }
            ],
            "record_id": "P07911-1",
            "evidence": [
                {
                    "id": "162000",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/162000"
                },
                {
                    "id": "0060062",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060062"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P27590-1",
            "uniprot_ac": "P27590",
            "uniprot_id": "UROM_RAT",
            "refseq_ac": "NP_058778",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Uromodulin",
                    "type": "recommended"
                },
                {
                    "name": "THP",
                    "type": "synonym"
                },
                {
                    "name": "Tamm-Horsfall urinary glycoprotein",
                    "type": "synonym"
                },
                {
                    "name": "Urmodulin (Tamm-Horsfall protein)",
                    "type": "synonym"
                },
                {
                    "name": "tamm-Horsfall urinary glycoprotein",
                    "type": "synonym"
                },
                {
                    "name": "uromodulin precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Umod",
                    "type": "recommended"
                },
                {
                    "name": "THP",
                    "type": "synonym"
                },
                {
                    "name": "Umod",
                    "type": "synonym"
                }
            ],
            "record_id": "P27590-1",
            "evidence": [
                {
                    "id": "0060062",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060062"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060062"
}