{
    "disease_id": "DOID:12712",
    "recommended_name": {
        "id": "DOID:12712",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:12712",
        "name": "nephronophthisis",
        "description": "A kidney disease that is characterized by a chronic tubulointerstitial nephritis that progress to terminal renal failure during the second decade (juvenile form) or before the age of 5 years (infantile form) resulting from dysfunction of ciliary proteins (ciliopathy)."
    },
    "synonyms": [
        {
            "id": "DOID:12712",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:12712",
            "name": "medullary cystic disease",
            "description": ""
        },
        {
            "id": "DOID:12712",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:12712",
            "name": "medullary cystic kidney",
            "description": ""
        },
        {
            "id": "MONDO:0009728",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009728",
            "name": "nephronophthisis 1",
            "description": "Progressive tubulointerstitial nephritis inherited in an autosomal recessive manner. It is caused by mutations in the NPHP1 gene. Patients present with anemia, polyuria, and polydipsia during childhood. The progressive bilateral kidney damage results in renal failure."
        },
        {
            "id": "MONDO:0009728",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009728",
            "name": "NPH1",
            "description": ""
        },
        {
            "id": "MONDO:0009728",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009728",
            "name": "juvenile nephronophthisis",
            "description": ""
        },
        {
            "id": "MONDO:0009728",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009728",
            "name": "familial juvenile nephronophthisis",
            "description": ""
        },
        {
            "id": "MONDO:0009728",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009728",
            "name": "nephronophthisis type 1",
            "description": ""
        },
        {
            "id": "MONDO:0009728",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009728",
            "name": "NPHP1",
            "description": ""
        },
        {
            "id": "MONDO:0009728",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009728",
            "name": "nephronophthisis 1; NPHP1",
            "description": ""
        },
        {
            "id": "MONDO:0009728",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009728",
            "name": "NPHP1 nephronophthisis (disease)",
            "description": ""
        },
        {
            "id": "MONDO:0009728",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009728",
            "name": "nephronophthisis, familial juvenile",
            "description": ""
        },
        {
            "id": "MONDO:0009728",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009728",
            "name": "juvenile nephronophthisis 1",
            "description": ""
        },
        {
            "id": "MONDO:0009728",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009728",
            "name": "nephronophthisis 1",
            "description": ""
        },
        {
            "id": "MONDO:0009728",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009728",
            "name": "Nph1",
            "description": ""
        },
        {
            "id": "MONDO:0009728",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009728",
            "name": "nephronophthisis (disease) caused by mutation in NPHP1",
            "description": ""
        },
        {
            "id": "MIM:256100",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/256100",
            "name": "Nephronophthisis 1",
            "description": "Nephronophthisis 1"
        }
    ]
}