{
    "disease_id": "DOID:0111112",
    "recommended_name": {
        "id": "DOID:0111112",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0111112",
        "name": "nephronophthisis 1",
        "description": "A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in or deletion of the NPHP1 gene on chromosome 2q13."
    },
    "synonyms": [
        {
            "id": "DOID:0111112",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111112",
            "name": "NPH1",
            "description": ""
        },
        {
            "id": "DOID:0111112",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111112",
            "name": "NPHP1",
            "description": ""
        },
        {
            "id": "DOID:0111112",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111112",
            "name": "juvenile nephronophthisis 1",
            "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": "juvenile nephronophthisis",
            "description": ""
        },
        {
            "id": "MONDO:0009728",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009728",
            "name": "nephronophthisis 1, juvenile",
            "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 nephronophthisis (disease)",
            "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, 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": "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"
        }
    ]
}