{
    "disease_id": "DOID:0111112",
    "recommended_name": {
        "id": "DOID:0111112",
        "resource": "Disease Ontology",
        "url": "https://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": "https://disease-ontology.org/term/DOID:0111112",
            "name": "NPH1",
            "description": ""
        },
        {
            "id": "DOID:0111112",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111112",
            "name": "NPHP1",
            "description": ""
        },
        {
            "id": "DOID:0111112",
            "resource": "Disease Ontology",
            "url": "https://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": "NPH1",
            "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": "NPHP1 nephronophthisis (disease)",
            "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": "juvenile nephronophthisis",
            "description": ""
        },
        {
            "id": "MONDO:0009728",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009728",
            "name": "nephronophthisis (disease) caused by mutation in NPHP1",
            "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": "nephronophthisis 1, juvenile",
            "description": ""
        },
        {
            "id": "MONDO:0009728",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009728",
            "name": "nephronophthisis type 1",
            "description": ""
        },
        {
            "id": "MIM:256100",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/256100",
            "name": "Nephronophthisis 1",
            "description": "Nephronophthisis 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111112"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111112",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111112",
            "categories": []
        },
        {
            "id": "MONDO:0009728",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009728",
            "categories": []
        },
        {
            "id": "MIM:256100",
            "database": "MIM",
            "url": "https://www.omim.org/entry/256100",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9QY53-1",
            "uniprot_ac": "Q9QY53",
            "uniprot_id": "NPHP1_MOUSE",
            "refseq_ac": "NP_058598",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nephrocystin-1",
                    "type": "recommended"
                },
                {
                    "name": "nephrocystin-1 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "nephrocystin-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nphp1",
                    "type": "recommended"
                },
                {
                    "name": "Nph1",
                    "type": "synonym"
                },
                {
                    "name": "Nphp1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9QY53-1",
            "evidence": [
                {
                    "id": "0111112",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111112"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O15259-1",
            "uniprot_ac": "O15259",
            "uniprot_id": "NPHP1_HUMAN",
            "refseq_ac": "NP_001121650",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nephrocystin-1",
                    "type": "recommended"
                },
                {
                    "name": "Juvenile nephronophthisis 1 protein",
                    "type": "synonym"
                },
                {
                    "name": "juvenile nephronophthisis 1 protein",
                    "type": "synonym"
                },
                {
                    "name": "nephrocystin-1 isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "nephronophthisis 1 (juvenile)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NPHP1",
                    "type": "recommended"
                },
                {
                    "name": "JBTS4",
                    "type": "synonym"
                },
                {
                    "name": "NPH1",
                    "type": "synonym"
                },
                {
                    "name": "NPHP1",
                    "type": "synonym"
                },
                {
                    "name": "SLSN1",
                    "type": "synonym"
                }
            ],
            "record_id": "O15259-1",
            "evidence": [
                {
                    "id": "256100",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/256100"
                },
                {
                    "id": "0111112",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111112"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LIM9-1",
            "uniprot_ac": "A0ABK0LIM9",
            "uniprot_id": "A0ABK0LIM9_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nephrocystin-1",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Nphp1",
                    "type": "recommended"
                }
            ],
            "record_id": "A0ABK0LIM9-1",
            "evidence": [
                {
                    "id": "0111112",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111112"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111112"
}