{
    "disease_id": "DOID:0111115",
    "recommended_name": {
        "id": "DOID:0111115",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111115",
        "name": "nephronophthisis 4",
        "description": "A nephronophthisis that has_material_basis_in mutation in the NPHP4 gene on chromosome 1p36.31."
    },
    "synonyms": [
        {
            "id": "DOID:0111115",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111115",
            "name": "NPHP4",
            "description": ""
        },
        {
            "id": "DOID:0111115",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111115",
            "name": "juvenile nephronophthisis 4",
            "description": ""
        },
        {
            "id": "MONDO:0011752",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011752",
            "name": "nephronophthisis 4",
            "description": "Any nephronophthisis in which the cause of the disease is a mutation in the NPHP4 gene."
        },
        {
            "id": "MONDO:0011752",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011752",
            "name": "NPHP4",
            "description": ""
        },
        {
            "id": "MONDO:0011752",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011752",
            "name": "NPHP4 nephronophthisis (disease)",
            "description": ""
        },
        {
            "id": "MONDO:0011752",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011752",
            "name": "nephronophthisis (disease) caused by mutation in NPHP4",
            "description": ""
        },
        {
            "id": "MONDO:0011752",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011752",
            "name": "nephronophthisis 4",
            "description": ""
        },
        {
            "id": "MONDO:0011752",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011752",
            "name": "nephronophthisis type 4",
            "description": ""
        },
        {
            "id": "MIM:606966",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/606966",
            "name": "Nephronophthisis 4",
            "description": "Nephronophthisis 4"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111115"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111115",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111115",
            "categories": []
        },
        {
            "id": "MONDO:0011752",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011752",
            "categories": []
        },
        {
            "id": "MIM:606966",
            "database": "MIM",
            "url": "https://www.omim.org/entry/606966",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9QA20-1",
            "uniprot_ac": "A0A8M9QA20",
            "uniprot_id": "A0A8M9QA20_DANRE",
            "refseq_ac": "XP_021334094",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nephrocystin-4 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "nephrocystin-4 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "nphp4",
                    "type": "recommended"
                },
                {
                    "name": "nphp4",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9QA20-1",
            "evidence": [
                {
                    "id": "0111115",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111115"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P59240-1",
            "uniprot_ac": "P59240",
            "uniprot_id": "NPHP4_MOUSE",
            "refseq_ac": "NP_700473",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nephrocystin-4",
                    "type": "recommended"
                },
                {
                    "name": "Nephroretinin",
                    "type": "synonym"
                },
                {
                    "name": "nephrocystin-4",
                    "type": "synonym"
                },
                {
                    "name": "nephroretinin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nphp4",
                    "type": "recommended"
                },
                {
                    "name": "4930564O18Rik",
                    "type": "synonym"
                },
                {
                    "name": "Nphp4",
                    "type": "synonym"
                },
                {
                    "name": "nmf192",
                    "type": "synonym"
                }
            ],
            "record_id": "P59240-1",
            "evidence": [
                {
                    "id": "0111115",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111115"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O75161-1",
            "uniprot_ac": "O75161",
            "uniprot_id": "NPHP4_HUMAN",
            "refseq_ac": "NP_001278522",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nephrocystin-4",
                    "type": "recommended"
                },
                {
                    "name": "Nephroretinin",
                    "type": "synonym"
                },
                {
                    "name": "POC10 centriolar protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "nephrocystin-4 isoform b",
                    "type": "synonym"
                },
                {
                    "name": "nephroretinin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NPHP4",
                    "type": "recommended"
                },
                {
                    "name": "KIAA0673",
                    "type": "synonym"
                },
                {
                    "name": "NPHP4",
                    "type": "synonym"
                },
                {
                    "name": "POC10",
                    "type": "synonym"
                },
                {
                    "name": "SLSN4",
                    "type": "synonym"
                }
            ],
            "record_id": "O75161-1",
            "evidence": [
                {
                    "id": "606966",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/606966"
                },
                {
                    "id": "0111115",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111115"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "G3V9Y6-1",
            "uniprot_ac": "G3V9Y6",
            "uniprot_id": "G3V9Y6_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nephrocystin 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nphp4",
                    "type": "recommended"
                }
            ],
            "record_id": "G3V9Y6-1",
            "evidence": [
                {
                    "id": "0111115",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111115"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111115"
}