{
    "disease_id": "DOID:0111113",
    "recommended_name": {
        "id": "DOID:0111113",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111113",
        "name": "nephronophthisis 2",
        "description": "A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the INVS gene on chromosome 9q31."
    },
    "synonyms": [
        {
            "id": "DOID:0111113",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111113",
            "name": "NPH2",
            "description": ""
        },
        {
            "id": "DOID:0111113",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111113",
            "name": "NPHP2",
            "description": ""
        },
        {
            "id": "DOID:0111113",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111113",
            "name": "infantile nephronophthisis 2",
            "description": ""
        },
        {
            "id": "MONDO:0011190",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011190",
            "name": "nephronophthisis 2",
            "description": "Any nephronophthisis in which the cause of the disease is a mutation in the INVS gene."
        },
        {
            "id": "MONDO:0011190",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011190",
            "name": "INVS nephronophthisis (disease)",
            "description": ""
        },
        {
            "id": "MONDO:0011190",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011190",
            "name": "NPH2",
            "description": ""
        },
        {
            "id": "MONDO:0011190",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011190",
            "name": "NPHP2",
            "description": ""
        },
        {
            "id": "MONDO:0011190",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011190",
            "name": "nephronophthisis (disease) caused by mutation in INVS",
            "description": ""
        },
        {
            "id": "MONDO:0011190",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011190",
            "name": "nephronophthisis 2",
            "description": ""
        },
        {
            "id": "MONDO:0011190",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011190",
            "name": "nephronophthisis 2, infantile",
            "description": ""
        },
        {
            "id": "MONDO:0011190",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011190",
            "name": "nephronophthisis type 2",
            "description": ""
        },
        {
            "id": "MIM:602088",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/602088",
            "name": "Nephronophthisis 2",
            "description": "Nephronophthisis 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111113"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111113",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111113",
            "categories": []
        },
        {
            "id": "MONDO:0011190",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011190",
            "categories": []
        },
        {
            "id": "MIM:602088",
            "database": "MIM",
            "url": "https://www.omim.org/entry/602088",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8UVC1-1",
            "uniprot_ac": "Q8UVC1",
            "uniprot_id": "INVS_DANRE",
            "refseq_ac": "NP_694502",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Inversin",
                    "type": "recommended"
                },
                {
                    "name": "inversin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "invs",
                    "type": "recommended"
                },
                {
                    "name": "invs",
                    "type": "synonym"
                },
                {
                    "name": "wu:fe47e11",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8UVC1-1",
            "evidence": [
                {
                    "id": "0111113",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111113"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O89019-1",
            "uniprot_ac": "O89019",
            "uniprot_id": "INVS_MOUSE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Inversin",
                    "type": "recommended"
                },
                {
                    "name": "Inversion of embryo turning protein",
                    "type": "synonym"
                },
                {
                    "name": "Nephrocystin-2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Invs",
                    "type": "recommended"
                },
                {
                    "name": "Inv",
                    "type": "synonym"
                },
                {
                    "name": "Nphp2",
                    "type": "synonym"
                }
            ],
            "record_id": "O89019-1",
            "evidence": [
                {
                    "id": "0111113",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111113"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Y283-1",
            "uniprot_ac": "Q9Y283",
            "uniprot_id": "INVS_HUMAN",
            "refseq_ac": "NP_055240",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Inversin",
                    "type": "recommended"
                },
                {
                    "name": "Inversion of embryo turning homolog",
                    "type": "synonym"
                },
                {
                    "name": "Nephrocystin-2",
                    "type": "synonym"
                },
                {
                    "name": "inversin isoform a",
                    "type": "synonym"
                },
                {
                    "name": "inversion of embryo turning homolog",
                    "type": "synonym"
                },
                {
                    "name": "inversion of embryonic turning",
                    "type": "synonym"
                },
                {
                    "name": "nephrocystin-2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "INVS",
                    "type": "recommended"
                },
                {
                    "name": "INVS",
                    "type": "synonym"
                },
                {
                    "name": "INV",
                    "type": "synonym"
                },
                {
                    "name": "NPH2",
                    "type": "synonym"
                },
                {
                    "name": "NPHP2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y283-1",
            "evidence": [
                {
                    "id": "602088",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/602088"
                },
                {
                    "id": "0111113",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111113"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4A4A8-1",
            "uniprot_ac": "D4A4A8",
            "uniprot_id": "D4A4A8_RAT",
            "refseq_ac": "XP_038965783",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Inversin",
                    "type": "recommended"
                },
                {
                    "name": "inversin isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Invs",
                    "type": "recommended"
                },
                {
                    "name": "Invs",
                    "type": "synonym"
                },
                {
                    "name": "RGD1563359",
                    "type": "synonym"
                }
            ],
            "record_id": "D4A4A8-1",
            "evidence": [
                {
                    "id": "0111113",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111113"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111113"
}