{
    "disease_id": "DOID:0061118",
    "recommended_name": {
        "id": "DOID:0061118",
        "resource": "Disease Ontology",
        "url": "http://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": "http://disease-ontology.org/term/DOID:0061118",
            "name": "HNFJ2",
            "description": ""
        },
        {
            "id": "DOID:0061118",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0061118",
            "name": "MCKD2",
            "description": ""
        },
        {
            "id": "DOID:0061118",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0061118",
            "name": "familial juvenile hyperuricemic nephropathy 2",
            "description": ""
        },
        {
            "id": "DOID:0061118",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0061118",
            "name": "medullary cystic kidney disease 2",
            "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": "MONDO:0020726",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020726",
            "name": "MUC1-related autosomal dominant tubulointerstitial kidney disease",
            "description": ""
        },
        {
            "id": "MONDO:0020726",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020726",
            "name": "Mckd",
            "description": ""
        },
        {
            "id": "MONDO:0020726",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020726",
            "name": "polycystic kidneys, medullary type",
            "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": "http://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": "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",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Breast carcinoma-associated antigen DF3",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "CA 15-3",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Cancer antigen 15-3",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Carcinoma-associated mucin",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "EMA",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Episialin",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "H23AG",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "KL-6",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Krebs von den Lungen-6",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "MUC-1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "MUC1-CT",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "PEMT",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "PEM",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "PUM",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Peanut-reactive urinary mucin",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Polymorphic epithelial mucin",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Tumor-associated epithelial membrane antigen",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Tumor-associated mucin",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "mucin-1 isoform 10 precursor",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "peanut-reactive urinary mucin; episialin; polymorphic epithelial mucin; H23 antigen; mucin 1, transmembrane; tumor associated epithelial mucin; breast carcinoma-associated antigen DF3; cancer antigen 15-3; carcinoma-associated mucin; tumor-associated epithelial membrane antigen; krebs von den Lungen-6",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MUC1",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "ADMCKD; ADMCKD1; ADTKD2; CA 15-3; Ca15-3; CD227; EMA; H23AG; KL-6; MAM6; MCD; MCKD; MCKD1; MUC-1; MUC-1/SEC; MUC-1/X; MUC1/ZD; PEM; PEMT; PUM",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "MUC1",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "PUM",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "174000",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/174000"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061118"
}