{
    "disease_id": "DOID:0061118",
    "recommended_name": {
        "id": "DOID:0061118",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061118",
        "name": "autosomal dominant tubulointerstitial kidney disease 2",
        "description": "An autosomal dominant tubulointerstitial kidney disease characterized by adult onset of impaired renal function and salt wasting resulting in chronic renal insufficiency and end-stage renal failure by the sixth decade that has_material_basis_in eterozygous mutation in the MUC1 gene on chromosome 1q22."
    },
    "synonyms": [
        {
            "id": "DOID:0061118",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061118",
            "name": "medullary cystic kidney disease 1",
            "description": ""
        },
        {
            "id": "DOID:0061118",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061118",
            "name": "autosomal dominant medullary cystic kidney disease",
            "description": ""
        },
        {
            "id": "DOID:0061118",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061118",
            "name": "medullary type polycystic kidneys",
            "description": ""
        },
        {
            "id": "MONDO:0020726",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020726",
            "name": "tubulointerstitial kidney disease, autosomal dominant, 2",
            "description": "An inherited disorder that causes a gradual loss of kidney function, caused by a mutation in the MUC1 gene that leads to production of an abnormal mucin 1 protein, which deposits in the kidney and leads to slow loss of kidney function."
        },
        {
            "id": "MONDO:0020726",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020726",
            "name": "ADTKD-MUC1",
            "description": ""
        },
        {
            "id": "MONDO:0020726",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020726",
            "name": "MCKD1",
            "description": ""
        },
        {
            "id": "MONDO:0020726",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020726",
            "name": "MUC1-related autosomal dominant medullary cystic kidney disease",
            "description": ""
        },
        {
            "id": "MONDO:0020726",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020726",
            "name": "MUCI-related ADTKD",
            "description": ""
        },
        {
            "id": "MONDO:0020726",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020726",
            "name": "autosomal dominant medullary cystic kidney disease without hyperuricemia",
            "description": ""
        },
        {
            "id": "MONDO:0020726",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020726",
            "name": "autosomal dominant tubulointerstitial kidney disease due to mutations in MUC1",
            "description": ""
        },
        {
            "id": "MONDO:0020726",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020726",
            "name": "medullary cystic kidney disease 1",
            "description": ""
        },
        {
            "id": "MONDO:0020726",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020726",
            "name": "medullary cystic kidney disease type 1",
            "description": ""
        },
        {
            "id": "MONDO:0020726",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020726",
            "name": "medullary cystic kidney disease, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0020726",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020726",
            "name": "ADMCKD1",
            "description": ""
        },
        {
            "id": "MIM:174000",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/174000",
            "name": "Tubulointerstitial kidney disease, autosomal dominant 2",
            "description": "Tubulointerstitial kidney disease, autosomal dominant 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061118"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061118",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061118",
            "categories": []
        },
        {
            "id": "MONDO:0020726",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020726",
            "categories": []
        },
        {
            "id": "MIM:174000",
            "database": "MIM",
            "url": "https://www.omim.org/entry/174000",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q02496-1",
            "uniprot_ac": "Q02496",
            "uniprot_id": "MUC1_MOUSE",
            "refseq_ac": "NP_038633",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mucin-1",
                    "type": "recommended"
                },
                {
                    "name": "Episialin",
                    "type": "synonym"
                },
                {
                    "name": "MUC-1",
                    "type": "synonym"
                },
                {
                    "name": "MUC1-CT",
                    "type": "synonym"
                },
                {
                    "name": "episialin",
                    "type": "synonym"
                },
                {
                    "name": "mucin-1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "mucin-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Muc1",
                    "type": "recommended"
                },
                {
                    "name": "CD227",
                    "type": "synonym"
                },
                {
                    "name": "EMA",
                    "type": "synonym"
                },
                {
                    "name": "Muc-1",
                    "type": "synonym"
                },
                {
                    "name": "Muc1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q02496-1",
            "evidence": [
                {
                    "id": "0061118",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061118"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P15941-1",
            "uniprot_ac": "P15941",
            "uniprot_id": "MUC1_HUMAN",
            "refseq_ac": "NP_001191215",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mucin-1",
                    "type": "recommended"
                },
                {
                    "name": "Breast carcinoma-associated antigen DF3",
                    "type": "synonym"
                },
                {
                    "name": "CA 15-3",
                    "type": "synonym"
                },
                {
                    "name": "Cancer antigen 15-3",
                    "type": "synonym"
                },
                {
                    "name": "Carcinoma-associated mucin",
                    "type": "synonym"
                },
                {
                    "name": "EMA",
                    "type": "synonym"
                },
                {
                    "name": "Episialin",
                    "type": "synonym"
                },
                {
                    "name": "H23 antigen",
                    "type": "synonym"
                },
                {
                    "name": "H23AG",
                    "type": "synonym"
                },
                {
                    "name": "KL-6",
                    "type": "synonym"
                },
                {
                    "name": "Krebs von den Lungen-6",
                    "type": "synonym"
                },
                {
                    "name": "MUC-1",
                    "type": "synonym"
                },
                {
                    "name": "MUC1-CT",
                    "type": "synonym"
                },
                {
                    "name": "PEMT",
                    "type": "synonym"
                },
                {
                    "name": "PEM",
                    "type": "synonym"
                },
                {
                    "name": "PUM",
                    "type": "synonym"
                },
                {
                    "name": "Peanut-reactive urinary mucin",
                    "type": "synonym"
                },
                {
                    "name": "Polymorphic epithelial mucin",
                    "type": "synonym"
                },
                {
                    "name": "Tumor-associated epithelial membrane antigen",
                    "type": "synonym"
                },
                {
                    "name": "Tumor-associated mucin",
                    "type": "synonym"
                },
                {
                    "name": "breast carcinoma-associated antigen DF3",
                    "type": "synonym"
                },
                {
                    "name": "cancer antigen 15-3",
                    "type": "synonym"
                },
                {
                    "name": "carcinoma-associated mucin",
                    "type": "synonym"
                },
                {
                    "name": "episialin",
                    "type": "synonym"
                },
                {
                    "name": "krebs von den Lungen-6",
                    "type": "synonym"
                },
                {
                    "name": "mucin 1, transmembrane",
                    "type": "synonym"
                },
                {
                    "name": "mucin-1 isoform 10 precursor",
                    "type": "synonym"
                },
                {
                    "name": "peanut-reactive urinary mucin",
                    "type": "synonym"
                },
                {
                    "name": "polymorphic epithelial mucin",
                    "type": "synonym"
                },
                {
                    "name": "tumor associated epithelial mucin",
                    "type": "synonym"
                },
                {
                    "name": "tumor-associated epithelial membrane antigen",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MUC1",
                    "type": "recommended"
                },
                {
                    "name": "ADMCKD1",
                    "type": "synonym"
                },
                {
                    "name": "ADMCKD",
                    "type": "synonym"
                },
                {
                    "name": "ADTKD2",
                    "type": "synonym"
                },
                {
                    "name": "CA 15-3",
                    "type": "synonym"
                },
                {
                    "name": "CD227",
                    "type": "synonym"
                },
                {
                    "name": "Ca15-3",
                    "type": "synonym"
                },
                {
                    "name": "EMA",
                    "type": "synonym"
                },
                {
                    "name": "H23AG",
                    "type": "synonym"
                },
                {
                    "name": "KL-6",
                    "type": "synonym"
                },
                {
                    "name": "MAM6",
                    "type": "synonym"
                },
                {
                    "name": "MCD",
                    "type": "synonym"
                },
                {
                    "name": "MCKD1",
                    "type": "synonym"
                },
                {
                    "name": "MCKD",
                    "type": "synonym"
                },
                {
                    "name": "MUC-1/SEC",
                    "type": "synonym"
                },
                {
                    "name": "MUC-1/X",
                    "type": "synonym"
                },
                {
                    "name": "MUC-1",
                    "type": "synonym"
                },
                {
                    "name": "MUC1/ZD",
                    "type": "synonym"
                },
                {
                    "name": "MUC1",
                    "type": "synonym"
                },
                {
                    "name": "PEMT",
                    "type": "synonym"
                },
                {
                    "name": "PEM",
                    "type": "synonym"
                },
                {
                    "name": "PUM",
                    "type": "synonym"
                }
            ],
            "record_id": "P15941-1",
            "evidence": [
                {
                    "id": "174000",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/174000"
                },
                {
                    "id": "0061118",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061118"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8IR52-1",
            "uniprot_ac": "Q8IR52",
            "uniprot_id": "Q8IR52_DROME",
            "refseq_ac": "NP_001368944",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG32602-PC",
                    "type": "synonym"
                },
                {
                    "name": "Muc12Ea-PC",
                    "type": "synonym"
                },
                {
                    "name": "Mucin 12Ea",
                    "type": "synonym"
                },
                {
                    "name": "mucin 12Ea",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Muc12Ea",
                    "type": "recommended"
                },
                {
                    "name": "CG32602",
                    "type": "synonym"
                },
                {
                    "name": "CG5228",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG32602",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG32602",
                    "type": "synonym"
                },
                {
                    "name": "Muc12Ea",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8IR52-1",
            "evidence": [
                {
                    "id": "0061118",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061118"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "X2JBD0-1",
            "uniprot_ac": "X2JBD0",
            "uniprot_id": "X2JBD0_DROME",
            "refseq_ac": "NP_001285150",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG32656-PB",
                    "type": "synonym"
                },
                {
                    "name": "Muc11A-PB",
                    "type": "synonym"
                },
                {
                    "name": "Mucin 11A",
                    "type": "synonym"
                },
                {
                    "name": "mucin 11A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Muc11A",
                    "type": "recommended"
                },
                {
                    "name": "CG2779",
                    "type": "synonym"
                },
                {
                    "name": "CG32656",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG32656",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG32656",
                    "type": "synonym"
                },
                {
                    "name": "Muc11A",
                    "type": "synonym"
                }
            ],
            "record_id": "X2JBD0-1",
            "evidence": [
                {
                    "id": "0061118",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061118"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O00292-1",
            "uniprot_ac": "O00292",
            "uniprot_id": "LFTY2_HUMAN",
            "refseq_ac": "NP_001165896",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Left-right determination factor 2",
                    "type": "recommended"
                },
                {
                    "name": "Endometrial bleeding-associated factor",
                    "type": "synonym"
                },
                {
                    "name": "Left-right determination factor A",
                    "type": "synonym"
                },
                {
                    "name": "Protein lefty-2",
                    "type": "synonym"
                },
                {
                    "name": "Protein lefty-A",
                    "type": "synonym"
                },
                {
                    "name": "TGF-beta-4",
                    "type": "synonym"
                },
                {
                    "name": "Transforming growth factor beta-4",
                    "type": "synonym"
                },
                {
                    "name": "endometrial bleeding-associated factor",
                    "type": "synonym"
                },
                {
                    "name": "left-right determination factor 2 isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "left-right determination factor A",
                    "type": "synonym"
                },
                {
                    "name": "protein lefty-2",
                    "type": "synonym"
                },
                {
                    "name": "protein lefty-A",
                    "type": "synonym"
                },
                {
                    "name": "transforming growth factor beta-4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LEFTY2",
                    "type": "recommended"
                },
                {
                    "name": "EBAF",
                    "type": "synonym"
                },
                {
                    "name": "LEFTA",
                    "type": "synonym"
                },
                {
                    "name": "LEFTY2",
                    "type": "synonym"
                },
                {
                    "name": "LEFTYA",
                    "type": "synonym"
                },
                {
                    "name": "PSEC0024",
                    "type": "synonym"
                },
                {
                    "name": "TGFB4",
                    "type": "synonym"
                }
            ],
            "record_id": "O00292-1",
            "evidence": [
                {
                    "id": "0061118",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061118"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061118"
}