{
    "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": []
}