{
    "disease_id": "DOID:0060911",
    "recommended_name": {
        "id": "DOID:0060911",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060911",
        "name": "karyomegalic interstitial nephritis",
        "description": "An interstitial nephritis characterized by nephritis, interstitial fibrosis, and enlarged and atypical tubular epithelial cell nuclei that has_material_basis_in homozygous or compound heterozygous mutation in the FAN1 gene on chromosome 15q13.3."
    },
    "synonyms": [
        {
            "id": "DOID:0060911",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060911",
            "name": "KIN",
            "description": ""
        },
        {
            "id": "DOID:0060911",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060911",
            "name": "KMIN",
            "description": ""
        },
        {
            "id": "MONDO:0013898",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013898",
            "name": "karyomegalic interstitial nephritis",
            "description": "Any interstitial nephritis in which the cause of the disease is a mutation in the FAN1 gene."
        },
        {
            "id": "MONDO:0013898",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013898",
            "name": "FAN1 interstitial nephritis",
            "description": ""
        },
        {
            "id": "MONDO:0013898",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013898",
            "name": "KIN",
            "description": ""
        },
        {
            "id": "MONDO:0013898",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013898",
            "name": "KMIN",
            "description": ""
        },
        {
            "id": "MONDO:0013898",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013898",
            "name": "interstitial nephritis caused by mutation in FAN1",
            "description": ""
        },
        {
            "id": "MONDO:0013898",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013898",
            "name": "karyomegalic interstitial nephritis",
            "description": ""
        },
        {
            "id": "MONDO:0013898",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013898",
            "name": "kin",
            "description": ""
        },
        {
            "id": "MONDO:0013898",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013898",
            "name": "systemic karyomegaly",
            "description": ""
        },
        {
            "id": "MONDO:0013898",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013898",
            "name": "interstitial nephritis, karyomegalic",
            "description": ""
        },
        {
            "id": "MIM:614817",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614817",
            "name": "Interstitial nephritis, karyomegalic",
            "description": "Interstitial nephritis, karyomegalic"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060911"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060911",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060911",
            "categories": []
        },
        {
            "id": "MONDO:0013898",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013898",
            "categories": []
        },
        {
            "id": "MIM:614817",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614817",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q1LWH4-1",
            "uniprot_ac": "Q1LWH4",
            "uniprot_id": "FAN1_DANRE",
            "refseq_ac": "NP_001038546",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fanconi-associated nuclease 1",
                    "type": "recommended"
                },
                {
                    "name": "3.1.21.-",
                    "type": "synonym"
                },
                {
                    "name": "3.1.4.1",
                    "type": "synonym"
                },
                {
                    "name": "FANCD2/FANCI-associated nuclease 1",
                    "type": "synonym"
                },
                {
                    "name": "Myotubularin-related protein 15",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil domain-containing protein MTMR15",
                    "type": "synonym"
                },
                {
                    "name": "fanconi-associated nuclease 1",
                    "type": "synonym"
                },
                {
                    "name": "myotubularin-related protein 15",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "fan1",
                    "type": "recommended"
                },
                {
                    "name": "fan1",
                    "type": "synonym"
                },
                {
                    "name": "fi39f01",
                    "type": "synonym"
                },
                {
                    "name": "mtmr15",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-163b1.2",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-201b11.2",
                    "type": "synonym"
                },
                {
                    "name": "wu:fd06a07",
                    "type": "synonym"
                },
                {
                    "name": "wu:fi39f01",
                    "type": "synonym"
                }
            ],
            "record_id": "Q1LWH4-1",
            "evidence": [
                {
                    "id": "0060911",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060911"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q69ZT1-1",
            "uniprot_ac": "Q69ZT1",
            "uniprot_id": "FAN1_MOUSE",
            "refseq_ac": "NP_808561",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fanconi-associated nuclease 1",
                    "type": "recommended"
                },
                {
                    "name": "3.1.21.-",
                    "type": "synonym"
                },
                {
                    "name": "3.1.4.1",
                    "type": "synonym"
                },
                {
                    "name": "FANCD2/FANCI-associated nuclease 1",
                    "type": "synonym"
                },
                {
                    "name": "Myotubularin-related protein 15",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil domain-containing protein MTMR15",
                    "type": "synonym"
                },
                {
                    "name": "fanconi-associated nuclease 1",
                    "type": "synonym"
                },
                {
                    "name": "mFAN1",
                    "type": "synonym"
                },
                {
                    "name": "myotubularin-related protein 15",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fan1",
                    "type": "recommended"
                },
                {
                    "name": "6030441H18Rik",
                    "type": "synonym"
                },
                {
                    "name": "Fan1",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa1018",
                    "type": "synonym"
                },
                {
                    "name": "Mtmr15",
                    "type": "synonym"
                },
                {
                    "name": "mFAN1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q69ZT1-1",
            "evidence": [
                {
                    "id": "0060911",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060911"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Y2M0-1",
            "uniprot_ac": "Q9Y2M0",
            "uniprot_id": "FAN1_HUMAN",
            "refseq_ac": "NP_001139566",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fanconi-associated nuclease 1",
                    "type": "recommended"
                },
                {
                    "name": "3.1.21.-",
                    "type": "synonym"
                },
                {
                    "name": "3.1.4.1",
                    "type": "synonym"
                },
                {
                    "name": "FANCD2/FANCI-associated nuclease 1",
                    "type": "synonym"
                },
                {
                    "name": "Myotubularin-related protein 15",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil domain-containing protein MTMR15",
                    "type": "synonym"
                },
                {
                    "name": "fanconi anemia associated nuclease 1",
                    "type": "synonym"
                },
                {
                    "name": "fanconi-associated nuclease 1 isoform b",
                    "type": "synonym"
                },
                {
                    "name": "hFAN1",
                    "type": "synonym"
                },
                {
                    "name": "myotubularin-related protein 15",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FAN1",
                    "type": "recommended"
                },
                {
                    "name": "FAN1",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1018",
                    "type": "synonym"
                },
                {
                    "name": "KMIN",
                    "type": "synonym"
                },
                {
                    "name": "MTMR15",
                    "type": "synonym"
                },
                {
                    "name": "hFAN1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y2M0-1",
            "evidence": [
                {
                    "id": "614817",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614817"
                },
                {
                    "id": "0060911",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060911"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZVU2-1",
            "uniprot_ac": "D3ZVU2",
            "uniprot_id": "D3ZVU2_RAT",
            "refseq_ac": "NP_001178562",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fanconi-associated nuclease",
                    "type": "recommended"
                },
                {
                    "name": "3.1.4.1",
                    "type": "synonym"
                },
                {
                    "name": "FANCD2/FANCI-associated nuclease 1",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil domain-containing protein MTMR15",
                    "type": "synonym"
                },
                {
                    "name": "fanconi-associated nuclease 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "fanconi-associated nuclease 1",
                    "type": "synonym"
                },
                {
                    "name": "myotubularin related protein 15",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fan1",
                    "type": "recommended"
                },
                {
                    "name": "Fan1",
                    "type": "synonym"
                },
                {
                    "name": "Mtmr15",
                    "type": "synonym"
                },
                {
                    "name": "RGD1566323",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZVU2-1",
            "evidence": [
                {
                    "id": "0060911",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060911"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060911"
}