{
    "disease_id": "DOID:0111116",
    "recommended_name": {
        "id": "DOID:0111116",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111116",
        "name": "nephronophthisis 7",
        "description": "A nephronophthisis that has_material_basis_in homozygous mutation in the GLIS2 gene on chromosome 16p13."
    },
    "synonyms": [
        {
            "id": "DOID:0111116",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111116",
            "name": "NPHP7",
            "description": ""
        },
        {
            "id": "MONDO:0012680",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012680",
            "name": "nephronophthisis 7",
            "description": "Any nephronophthisis in which the cause of the disease is a mutation in the GLIS2 gene."
        },
        {
            "id": "MONDO:0012680",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012680",
            "name": "GLIS2 nephronophthisis (disease)",
            "description": ""
        },
        {
            "id": "MONDO:0012680",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012680",
            "name": "NPHP7",
            "description": ""
        },
        {
            "id": "MONDO:0012680",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012680",
            "name": "nephronophthisis (disease) caused by mutation in GLIS2",
            "description": ""
        },
        {
            "id": "MONDO:0012680",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012680",
            "name": "nephronophthisis 7",
            "description": ""
        },
        {
            "id": "MONDO:0012680",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012680",
            "name": "nephronophthisis type 7",
            "description": ""
        },
        {
            "id": "MIM:611498",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/611498",
            "name": "Nephronophthisis 7",
            "description": "Nephronophthisis 7"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111116"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111116",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111116",
            "categories": []
        },
        {
            "id": "MONDO:0012680",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012680",
            "categories": []
        },
        {
            "id": "MIM:611498",
            "database": "MIM",
            "url": "https://www.omim.org/entry/611498",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0ACD6B7D0-1",
            "uniprot_ac": "A0ACD6B7D0",
            "uniprot_id": "A0ACD6B7D0_DANRE",
            "refseq_ac": "XP_021324946",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Zinc finger protein GLIS2",
                    "type": "recommended"
                },
                {
                    "name": "GLI-similar 2",
                    "type": "synonym"
                },
                {
                    "name": "Neuronal Krueppel-like protein",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein GLIS2b isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "glis2b",
                    "type": "recommended"
                },
                {
                    "name": "glis2b",
                    "type": "synonym"
                },
                {
                    "name": "si:rp71-84k24.2",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ACD6B7D0-1",
            "evidence": [
                {
                    "id": "0111116",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111116"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8VDL9-1",
            "uniprot_ac": "Q8VDL9",
            "uniprot_id": "GLIS2_MOUSE",
            "refseq_ac": "NP_112461",
            "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 GLIS2",
                    "type": "recommended"
                },
                {
                    "name": "GLI-Kruppel family member GLI5",
                    "type": "synonym"
                },
                {
                    "name": "GLI-similar 2",
                    "type": "synonym"
                },
                {
                    "name": "Kruppel-like factor 16 (neuronal)",
                    "type": "synonym"
                },
                {
                    "name": "Neuronal Krueppel-like protein",
                    "type": "synonym"
                },
                {
                    "name": "Zinc finger protein GLI5",
                    "type": "synonym"
                },
                {
                    "name": "neuronal Krueppel-like protein",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein GLI5",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein GLIS2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Glis2",
                    "type": "recommended"
                },
                {
                    "name": "Gli5",
                    "type": "synonym"
                },
                {
                    "name": "Glis2",
                    "type": "synonym"
                },
                {
                    "name": "Klf16",
                    "type": "synonym"
                },
                {
                    "name": "Nkl",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8VDL9-1",
            "evidence": [
                {
                    "id": "0111116",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111116"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9BZE0-1",
            "uniprot_ac": "Q9BZE0",
            "uniprot_id": "GLIS2_HUMAN",
            "refseq_ac": "NP_001305847",
            "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 GLIS2",
                    "type": "recommended"
                },
                {
                    "name": "GLI-similar 2",
                    "type": "synonym"
                },
                {
                    "name": "Kruppel-like zinc finger protein GLIS2",
                    "type": "synonym"
                },
                {
                    "name": "Neuronal Krueppel-like protein",
                    "type": "synonym"
                },
                {
                    "name": "nephrocystin-7",
                    "type": "synonym"
                },
                {
                    "name": "neuronal Krueppel-like protein",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein GLIS2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GLIS2",
                    "type": "recommended"
                },
                {
                    "name": "GLIS2",
                    "type": "synonym"
                },
                {
                    "name": "NKL",
                    "type": "synonym"
                },
                {
                    "name": "NPHP7",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9BZE0-1",
            "evidence": [
                {
                    "id": "611498",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/611498"
                },
                {
                    "id": "0111116",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111116"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZIA9-1",
            "uniprot_ac": "D3ZIA9",
            "uniprot_id": "D3ZIA9_RAT",
            "refseq_ac": "XP_038941774",
            "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 GLIS2",
                    "type": "recommended"
                },
                {
                    "name": "GLI-similar 2",
                    "type": "synonym"
                },
                {
                    "name": "Neuronal Krueppel-like protein",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein GLIS2 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Glis2",
                    "type": "recommended"
                },
                {
                    "name": "Glis2",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZIA9-1",
            "evidence": [
                {
                    "id": "0111116",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111116"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7K0S9-1",
            "uniprot_ac": "Q7K0S9",
            "uniprot_id": "GLIS2_DROME",
            "refseq_ac": "NP_610826",
            "glycoprotein": "yes",
            "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 GLIS2 homolog",
                    "type": "recommended"
                },
                {
                    "name": "CG3850-PA",
                    "type": "synonym"
                },
                {
                    "name": "Protein sugarbabe",
                    "type": "synonym"
                },
                {
                    "name": "sug-PA",
                    "type": "synonym"
                },
                {
                    "name": "sugarbabe, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "sugarbabe",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "sug",
                    "type": "recommended"
                },
                {
                    "name": "CG3850",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3850",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG3850",
                    "type": "synonym"
                },
                {
                    "name": "Sug",
                    "type": "synonym"
                },
                {
                    "name": "sug",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7K0S9-1",
            "evidence": [
                {
                    "id": "0111116",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111116"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111116"
}