{
    "disease_id": "DOID:0061119",
    "recommended_name": {
        "id": "DOID:0061119",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0061119",
        "name": "autosomal dominant tubulointerstitial kidney disease 4",
        "description": "An autosomal dominant tubulointerstitial kidney disease characterized by early-onset anemia and increased serum uric acid with a bland urinalysis and without proteinuria that has_material_basis_in heterozygous mutation in the renin gene on chromosome 1q32."
    },
    "synonyms": [
        {
            "id": "DOID:0061119",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0061119",
            "name": "HNFJ4",
            "description": ""
        },
        {
            "id": "DOID:0061119",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0061119",
            "name": "MCKD4",
            "description": ""
        },
        {
            "id": "DOID:0061119",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0061119",
            "name": "familial juvenile hyperuricemic nephropathy 4",
            "description": ""
        },
        {
            "id": "DOID:0061119",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0061119",
            "name": "medullary cystic kidney disease 4",
            "description": ""
        },
        {
            "id": "MONDO:0013128",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013128",
            "name": "familial juvenile hyperuricemic nephropathy type 2",
            "description": "Familial juvenile hyperuricemic nephropathy type 2 is a rare autosomal dominantly inherited disease of childhood characterized by hypoproliferative anemia, hyperuricemia and slowly progressing kidney failure due to dysregulation of the renin-angiotensin system (RAS)."
        },
        {
            "id": "MONDO:0013128",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013128",
            "name": "ADTKD-REN",
            "description": ""
        },
        {
            "id": "MONDO:0013128",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013128",
            "name": "FJHN type 2",
            "description": ""
        },
        {
            "id": "MONDO:0013128",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013128",
            "name": "REN familial juvenile hyperuricemic nephropathy",
            "description": ""
        },
        {
            "id": "MONDO:0013128",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013128",
            "name": "REN-associated FJHN",
            "description": ""
        },
        {
            "id": "MONDO:0013128",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013128",
            "name": "REN-associated familial juvenile hyperuricemic nephropathy",
            "description": ""
        },
        {
            "id": "MONDO:0013128",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013128",
            "name": "REN-associated kidney disease",
            "description": ""
        },
        {
            "id": "MONDO:0013128",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013128",
            "name": "autosomal dominant tubulointerstitial kidney disease due to mutations in REN",
            "description": ""
        },
        {
            "id": "MONDO:0013128",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013128",
            "name": "familial juvenile hyperuricemic nephropathy caused by mutation in REN",
            "description": ""
        },
        {
            "id": "MONDO:0013128",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013128",
            "name": "familial juvenile hyperuricemic nephropathy type 2",
            "description": ""
        },
        {
            "id": "MONDO:0013128",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013128",
            "name": "hyperuricemic nephropathy, familial juvenile, type 2",
            "description": ""
        },
        {
            "id": "MONDO:0013128",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013128",
            "name": "tubulointerstitial kidney disease, autosomal dominant, 4",
            "description": ""
        },
        {
            "id": "MONDO:0013128",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013128",
            "name": "HNFJ2",
            "description": ""
        },
        {
            "id": "MONDO:0013128",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013128",
            "name": "REN-related autosomal dominant tubulointerstitial kidney disease",
            "description": ""
        },
        {
            "id": "MONDO:0013128",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013128",
            "name": "early-onset hyperuricemia, Anemia, and progressive kidney failure",
            "description": ""
        },
        {
            "id": "MONDO:0013128",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013128",
            "name": "hyperuricemic nephropathy, familial juvenile, 2",
            "description": ""
        },
        {
            "id": "MIM:613092",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613092",
            "name": "Tubulointerstitial kidney disease, autosomal dominant, 4",
            "description": "Tubulointerstitial kidney disease, autosomal dominant, 4"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061119"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061119",
            "database": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0061119",
            "categories": []
        },
        {
            "id": "MONDO:0013128",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013128",
            "categories": []
        },
        {
            "id": "MIM:613092",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613092",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P00797-1",
            "uniprot_ac": "P00797",
            "uniprot_id": "RENI_HUMAN",
            "refseq_ac": "NP_000528",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Renin",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "3.4.23.15",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Angiotensinogenase",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "renin precursor, renal; angiotensin-forming enzyme; angiotensinogenase",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "renin preproprotein",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "REN",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "ADTKD4; HNFJ2; RTD",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "REN",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "613092",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613092"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061119"
}