{
    "disease_id": "DOID:0111122",
    "recommended_name": {
        "id": "DOID:0111122",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111122",
        "name": "nephronophthisis 14",
        "description": "A nephronophthisis that has_material_basis_in homozygous mutation in the ZNF423 gene on chromosome 16q12.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111122",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111122",
            "name": "NPHP14",
            "description": ""
        },
        {
            "id": "MONDO:0013916",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013916",
            "name": "nephronophthisis 14",
            "description": "Any nephronophthisis in which the cause of the disease is a mutation in the ZNF423 gene."
        },
        {
            "id": "MONDO:0013916",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013916",
            "name": "NPHP14",
            "description": ""
        },
        {
            "id": "MONDO:0013916",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013916",
            "name": "ZNF423 nephronophthisis (disease)",
            "description": ""
        },
        {
            "id": "MONDO:0013916",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013916",
            "name": "nephronophthisis (disease) caused by mutation in ZNF423",
            "description": ""
        },
        {
            "id": "MONDO:0013916",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013916",
            "name": "nephronophthisis 14",
            "description": ""
        },
        {
            "id": "MONDO:0013916",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013916",
            "name": "nephronophthisis type 14",
            "description": ""
        },
        {
            "id": "MIM:614844",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614844",
            "name": "Nephronophthisis 14",
            "description": "Nephronophthisis 14"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111122"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111122",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111122",
            "categories": []
        },
        {
            "id": "MONDO:0013916",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013916",
            "categories": []
        },
        {
            "id": "MIM:614844",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614844",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A1L1R6-1",
            "uniprot_ac": "A1L1R6",
            "uniprot_id": "ZN423_DANRE",
            "refseq_ac": "NP_001073499",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Zinc finger protein 423",
                    "type": "recommended"
                },
                {
                    "name": "zinc finger protein 423-like",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein 423",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "znf423",
                    "type": "recommended"
                },
                {
                    "name": "si:ch211-212o1.3",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-216l23.1",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc95d03",
                    "type": "synonym"
                },
                {
                    "name": "zgc:158272",
                    "type": "synonym"
                },
                {
                    "name": "znf423",
                    "type": "synonym"
                }
            ],
            "record_id": "A1L1R6-1",
            "evidence": [
                {
                    "id": "0111122",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111122"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q80TS5-1",
            "uniprot_ac": "Q80TS5",
            "uniprot_id": "ZN423_MOUSE",
            "refseq_ac": "NP_201584",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Zinc finger protein 423",
                    "type": "recommended"
                },
                {
                    "name": "Early B-cell factor-associated zinc finger protein",
                    "type": "synonym"
                },
                {
                    "name": "Olf1/EBF-associated zinc finger protein",
                    "type": "synonym"
                },
                {
                    "name": "Smad- and Olf-interacting zinc finger protein",
                    "type": "synonym"
                },
                {
                    "name": "early B-cell factor associated zinc finger protein",
                    "type": "synonym"
                },
                {
                    "name": "early B-cell factor associated zinc finger transcription factor",
                    "type": "synonym"
                },
                {
                    "name": "olf1/EBF-associated zinc finger protein",
                    "type": "synonym"
                },
                {
                    "name": "smad- and Olf-interacting zinc finger protein",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein 104",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein 423 isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Zfp423",
                    "type": "recommended"
                },
                {
                    "name": "Znf423",
                    "type": "recommended"
                },
                {
                    "name": "Ebfaz",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa0760",
                    "type": "synonym"
                },
                {
                    "name": "Nur12",
                    "type": "synonym"
                },
                {
                    "name": "Oaz",
                    "type": "synonym"
                },
                {
                    "name": "Roaz",
                    "type": "synonym"
                },
                {
                    "name": "Zfp104",
                    "type": "synonym"
                },
                {
                    "name": "Zfp423",
                    "type": "synonym"
                },
                {
                    "name": "Znf423",
                    "type": "synonym"
                },
                {
                    "name": "ataxia1",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA0760",
                    "type": "synonym"
                },
                {
                    "name": "nur12",
                    "type": "synonym"
                }
            ],
            "record_id": "Q80TS5-1",
            "evidence": [
                {
                    "id": "0111122",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111122"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q2M1K9-1",
            "uniprot_ac": "Q2M1K9",
            "uniprot_id": "ZN423_HUMAN",
            "refseq_ac": "NP_001258549",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Zinc finger protein 423",
                    "type": "recommended"
                },
                {
                    "name": "Ebf-associated zinc finger protein",
                    "type": "synonym"
                },
                {
                    "name": "OLF-1/EBF associated zinc finger",
                    "type": "synonym"
                },
                {
                    "name": "Olf1/EBF-associated zinc finger protein",
                    "type": "synonym"
                },
                {
                    "name": "Smad- and Olf-interacting zinc finger protein",
                    "type": "synonym"
                },
                {
                    "name": "early B-cell factor associated zinc finger protein",
                    "type": "synonym"
                },
                {
                    "name": "hOAZ",
                    "type": "synonym"
                },
                {
                    "name": "olf1/EBF-associated zinc finger protein",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein 423 isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ZNF423",
                    "type": "recommended"
                },
                {
                    "name": "Ebfaz",
                    "type": "synonym"
                },
                {
                    "name": "JBTS19",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0760",
                    "type": "synonym"
                },
                {
                    "name": "NPHP14",
                    "type": "synonym"
                },
                {
                    "name": "OAZ",
                    "type": "synonym"
                },
                {
                    "name": "Roaz",
                    "type": "synonym"
                },
                {
                    "name": "ZFP423",
                    "type": "synonym"
                },
                {
                    "name": "ZNF423",
                    "type": "synonym"
                },
                {
                    "name": "Zfp104",
                    "type": "synonym"
                },
                {
                    "name": "hOAZ",
                    "type": "synonym"
                }
            ],
            "record_id": "Q2M1K9-1",
            "evidence": [
                {
                    "id": "614844",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614844"
                },
                {
                    "id": "0111122",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111122"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O08961-1",
            "uniprot_ac": "O08961",
            "uniprot_id": "ZN423_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": "Zinc finger protein 423",
                    "type": "recommended"
                },
                {
                    "name": "Olf1/EBF-associated zinc finger protein",
                    "type": "synonym"
                },
                {
                    "name": "Smad- and Olf-interacting zinc finger protein",
                    "type": "synonym"
                },
                {
                    "name": "rOAZ",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Zfp423",
                    "type": "recommended"
                },
                {
                    "name": "Znf423",
                    "type": "recommended"
                },
                {
                    "name": "Oaz",
                    "type": "synonym"
                },
                {
                    "name": "Zfp423",
                    "type": "synonym"
                }
            ],
            "record_id": "O08961-1",
            "evidence": [
                {
                    "id": "0111122",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111122"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A1Z9R4-1",
            "uniprot_ac": "A1Z9R4",
            "uniprot_id": "ZN423_DROME",
            "refseq_ac": "NP_001097315",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Zinc finger protein 423 homolog",
                    "type": "recommended"
                },
                {
                    "name": "CG42702-PB",
                    "type": "synonym"
                },
                {
                    "name": "L-PB",
                    "type": "synonym"
                },
                {
                    "name": "O/E-associated zinc finger protein",
                    "type": "synonym"
                },
                {
                    "name": "Protein Lobe",
                    "type": "synonym"
                },
                {
                    "name": "freaky eye",
                    "type": "synonym"
                },
                {
                    "name": "lethal (2) 03563",
                    "type": "synonym"
                },
                {
                    "name": "lobe, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "lobe",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "L",
                    "type": "recommended"
                },
                {
                    "name": "CG17388",
                    "type": "synonym"
                },
                {
                    "name": "CG17389",
                    "type": "synonym"
                },
                {
                    "name": "CG17390",
                    "type": "synonym"
                },
                {
                    "name": "CG42702",
                    "type": "synonym"
                },
                {
                    "name": "Dm_2R:42259",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG42702",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG42702",
                    "type": "synonym"
                },
                {
                    "name": "L",
                    "type": "synonym"
                },
                {
                    "name": "Oaz",
                    "type": "synonym"
                },
                {
                    "name": "dmOAZ",
                    "type": "synonym"
                },
                {
                    "name": "fee",
                    "type": "synonym"
                },
                {
                    "name": "l(2)03563",
                    "type": "synonym"
                },
                {
                    "name": "oaz",
                    "type": "synonym"
                }
            ],
            "record_id": "A1Z9R4-1",
            "evidence": [
                {
                    "id": "0111122",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111122"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111122"
}