{
    "disease_id": "DOID:0061119",
    "recommended_name": {
        "id": "DOID:0061119",
        "resource": "Disease Ontology",
        "url": "https://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": "https://disease-ontology.org/term/DOID:0061119",
            "name": "familial juvenile hyperuricemic nephropathy 2",
            "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": "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": "https://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": "P06281-1",
            "uniprot_ac": "P06281",
            "uniprot_id": "RENI1_MOUSE",
            "refseq_ac": "NP_112469",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Renin-1",
                    "type": "recommended"
                },
                {
                    "name": "3.4.23.15",
                    "type": "synonym"
                },
                {
                    "name": "Angiotensinogenase",
                    "type": "synonym"
                },
                {
                    "name": "Kidney renin",
                    "type": "synonym"
                },
                {
                    "name": "angiotensinogenase",
                    "type": "synonym"
                },
                {
                    "name": "aspartyl-protease",
                    "type": "synonym"
                },
                {
                    "name": "kidney renin",
                    "type": "synonym"
                },
                {
                    "name": "renin b",
                    "type": "synonym"
                },
                {
                    "name": "renin-1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "renin-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ren1",
                    "type": "recommended"
                },
                {
                    "name": "Ren-1",
                    "type": "synonym"
                },
                {
                    "name": "Ren-A",
                    "type": "synonym"
                },
                {
                    "name": "Ren1c",
                    "type": "synonym"
                },
                {
                    "name": "Ren1d",
                    "type": "synonym"
                },
                {
                    "name": "Ren1",
                    "type": "synonym"
                },
                {
                    "name": "Ren",
                    "type": "synonym"
                },
                {
                    "name": "Rn-1",
                    "type": "synonym"
                },
                {
                    "name": "Rnr",
                    "type": "synonym"
                }
            ],
            "record_id": "P06281-1",
            "evidence": [
                {
                    "id": "0061119",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061119"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P00796-1",
            "uniprot_ac": "P00796",
            "uniprot_id": "RENI2_MOUSE",
            "refseq_ac": "NP_112470",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Renin-2",
                    "type": "recommended"
                },
                {
                    "name": "3.4.23.15",
                    "type": "synonym"
                },
                {
                    "name": "Angiotensinogenase",
                    "type": "synonym"
                },
                {
                    "name": "Submandibular gland renin",
                    "type": "synonym"
                },
                {
                    "name": "angiotensinogenase",
                    "type": "synonym"
                },
                {
                    "name": "renin-2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "renin-2",
                    "type": "synonym"
                },
                {
                    "name": "submandibular gland renin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ren2",
                    "type": "recommended"
                },
                {
                    "name": "Ren-2",
                    "type": "synonym"
                },
                {
                    "name": "Ren-B",
                    "type": "synonym"
                },
                {
                    "name": "Ren2",
                    "type": "synonym"
                },
                {
                    "name": "Ren",
                    "type": "synonym"
                },
                {
                    "name": "Rn-2",
                    "type": "synonym"
                },
                {
                    "name": "Rnr",
                    "type": "synonym"
                }
            ],
            "record_id": "P00796-1",
            "evidence": [
                {
                    "id": "0061119",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061119"
                }
            ]
        },
        {
            "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",
                    "type": "recommended"
                },
                {
                    "name": "3.4.23.15",
                    "type": "synonym"
                },
                {
                    "name": "Angiotensinogenase",
                    "type": "synonym"
                },
                {
                    "name": "angiotensin-forming enzyme",
                    "type": "synonym"
                },
                {
                    "name": "angiotensinogenase",
                    "type": "synonym"
                },
                {
                    "name": "renin precursor, renal",
                    "type": "synonym"
                },
                {
                    "name": "renin preproprotein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "REN",
                    "type": "recommended"
                },
                {
                    "name": "ADTKD4",
                    "type": "synonym"
                },
                {
                    "name": "HNFJ2",
                    "type": "synonym"
                },
                {
                    "name": "REN",
                    "type": "synonym"
                },
                {
                    "name": "RTD",
                    "type": "synonym"
                }
            ],
            "record_id": "P00797-1",
            "evidence": [
                {
                    "id": "613092",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613092"
                },
                {
                    "id": "0061119",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061119"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P07267-1",
            "uniprot_ac": "P07267",
            "uniprot_id": "CARP_YEAST",
            "refseq_ac": "NP_015171",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Saccharopepsin",
                    "type": "recommended"
                },
                {
                    "name": "3.4.23.25",
                    "type": "synonym"
                },
                {
                    "name": "Aspartate protease",
                    "type": "synonym"
                },
                {
                    "name": "Carboxypeptidase Y-deficient protein 4",
                    "type": "synonym"
                },
                {
                    "name": "PrA",
                    "type": "synonym"
                },
                {
                    "name": "Proteinase A",
                    "type": "synonym"
                },
                {
                    "name": "Proteinase YSCA",
                    "type": "synonym"
                },
                {
                    "name": "proteinase A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PEP4",
                    "type": "recommended"
                },
                {
                    "name": "P2585",
                    "type": "synonym"
                },
                {
                    "name": "PEP4",
                    "type": "synonym"
                },
                {
                    "name": "PHO9",
                    "type": "synonym"
                },
                {
                    "name": "PRA1",
                    "type": "synonym"
                },
                {
                    "name": "yscA",
                    "type": "synonym"
                }
            ],
            "record_id": "P07267-1",
            "evidence": [
                {
                    "id": "0061119",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061119"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P08424-1",
            "uniprot_ac": "P08424",
            "uniprot_id": "RENI_RAT",
            "refseq_ac": "NP_036774",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Renin",
                    "type": "recommended"
                },
                {
                    "name": "3.4.23.15",
                    "type": "synonym"
                },
                {
                    "name": "Angiotensinogenase",
                    "type": "synonym"
                },
                {
                    "name": "angiotensinogenase",
                    "type": "synonym"
                },
                {
                    "name": "renin 1 structural",
                    "type": "synonym"
                },
                {
                    "name": "renin precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ren1",
                    "type": "recommended"
                },
                {
                    "name": "Ren",
                    "type": "recommended"
                },
                {
                    "name": "RATRENAA",
                    "type": "synonym"
                },
                {
                    "name": "RENAA",
                    "type": "synonym"
                },
                {
                    "name": "Ren1",
                    "type": "synonym"
                },
                {
                    "name": "Ren",
                    "type": "synonym"
                }
            ],
            "record_id": "P08424-1",
            "evidence": [
                {
                    "id": "0061119",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061119"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VQ11-1",
            "uniprot_ac": "Q9VQ11",
            "uniprot_id": "Q9VQ11_DROME",
            "refseq_ac": "NP_001259869",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Peptidase A1 domain-containing protein",
                    "type": "recommended"
                },
                {
                    "name": "CG31928-PB",
                    "type": "synonym"
                },
                {
                    "name": "lysosomal aspartic protease",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG31928",
                    "type": "recommended"
                },
                {
                    "name": "CG10872",
                    "type": "synonym"
                },
                {
                    "name": "CG31928",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG31928",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG31928",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VQ11-1",
            "evidence": [
                {
                    "id": "0061119",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061119"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VQ13-1",
            "uniprot_ac": "Q9VQ13",
            "uniprot_id": "Q9VQ13_DROME",
            "refseq_ac": "NP_001259870",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Peptidase A1 domain-containing protein",
                    "type": "recommended"
                },
                {
                    "name": "CG31926-PB",
                    "type": "synonym"
                },
                {
                    "name": "aspartic-type endopeptidase",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG31926",
                    "type": "recommended"
                },
                {
                    "name": "CG10872",
                    "type": "synonym"
                },
                {
                    "name": "CG31926",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG31926",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG31926",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VQ13-1",
            "evidence": [
                {
                    "id": "0061119",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061119"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VQ14-1",
            "uniprot_ac": "Q9VQ14",
            "uniprot_id": "Q9VQ14_DROME",
            "refseq_ac": "NP_722707",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Peptidase A1 domain-containing protein",
                    "type": "recommended"
                },
                {
                    "name": "CG31661-PA",
                    "type": "synonym"
                },
                {
                    "name": "aspartic-type endopeptidase",
                    "type": "synonym"
                },
                {
                    "name": "lysosomal aspartic protease",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CG10872",
                    "type": "recommended"
                },
                {
                    "name": "CG10872",
                    "type": "synonym"
                },
                {
                    "name": "CG31661",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG31661",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG31661",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VQ14-1",
            "evidence": [
                {
                    "id": "0061119",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061119"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q92506-1",
            "uniprot_ac": "Q92506",
            "uniprot_id": "DHB8_HUMAN",
            "refseq_ac": "NP_055049",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "(3R)-3-hydroxyacyl-CoA dehydrogenase",
                    "type": "recommended"
                },
                {
                    "name": "(3R)-3-hydroxyacyl-CoA dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "1.1.1.239",
                    "type": "synonym"
                },
                {
                    "name": "1.1.1.62",
                    "type": "synonym"
                },
                {
                    "name": "1.1.1.n12",
                    "type": "synonym"
                },
                {
                    "name": "17-beta-HSD 8",
                    "type": "synonym"
                },
                {
                    "name": "17-beta-hydroxysteroid dehydrogenase 8",
                    "type": "synonym"
                },
                {
                    "name": "3-ketoacyl-[acyl-carrier-protein] reductase alpha subunit",
                    "type": "synonym"
                },
                {
                    "name": "3-oxoacyl-[acyl-carrier-protein] reductase",
                    "type": "synonym"
                },
                {
                    "name": "Estradiol 17-beta-dehydrogenase 8",
                    "type": "synonym"
                },
                {
                    "name": "HSD17B8",
                    "type": "synonym"
                },
                {
                    "name": "KAR alpha subunit",
                    "type": "synonym"
                },
                {
                    "name": "Ke6",
                    "type": "synonym"
                },
                {
                    "name": "Protein Ke6",
                    "type": "synonym"
                },
                {
                    "name": "Short chain dehydrogenase/reductase family 30C member 1",
                    "type": "synonym"
                },
                {
                    "name": "Testosterone 17-beta-dehydrogenase 8",
                    "type": "synonym"
                },
                {
                    "name": "estradiol 17-beta-dehydrogenase 8",
                    "type": "synonym"
                },
                {
                    "name": "estrogen 17-oxidoreductase",
                    "type": "synonym"
                },
                {
                    "name": "ke-6",
                    "type": "synonym"
                },
                {
                    "name": "protein Ke6",
                    "type": "synonym"
                },
                {
                    "name": "really interesting new gene 2 protein",
                    "type": "synonym"
                },
                {
                    "name": "short chain dehydrogenase/reductase family 30C member 1",
                    "type": "synonym"
                },
                {
                    "name": "testosterone 17-beta-dehydrogenase 8",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HSD17B8",
                    "type": "recommended"
                },
                {
                    "name": "D6S2245E",
                    "type": "synonym"
                },
                {
                    "name": "FABGL",
                    "type": "synonym"
                },
                {
                    "name": "FABG",
                    "type": "synonym"
                },
                {
                    "name": "H2-KE6",
                    "type": "synonym"
                },
                {
                    "name": "HKE6",
                    "type": "synonym"
                },
                {
                    "name": "HSD17B8",
                    "type": "synonym"
                },
                {
                    "name": "KE6",
                    "type": "synonym"
                },
                {
                    "name": "RING2",
                    "type": "synonym"
                },
                {
                    "name": "SDR30C1",
                    "type": "synonym"
                },
                {
                    "name": "dJ1033B10.9",
                    "type": "synonym"
                }
            ],
            "record_id": "Q92506-1",
            "evidence": [
                {
                    "id": "0061119",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061119"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061119"
}