{
    "disease_id": "DOID:0111126",
    "recommended_name": {
        "id": "DOID:0111126",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111126",
        "name": "nephronophthisis 19",
        "description": "A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the DCDC2 gene on chromosome 6p22."
    },
    "synonyms": [
        {
            "id": "DOID:0111126",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111126",
            "name": "NPHP19",
            "description": ""
        },
        {
            "id": "MONDO:0014537",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014537",
            "name": "nephronophthisis 19",
            "description": "Any nephronophthisis in which the cause of the disease is a mutation in the DCDC2 gene."
        },
        {
            "id": "MONDO:0014537",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014537",
            "name": "DCDC2 nephronophthisis (disease)",
            "description": ""
        },
        {
            "id": "MONDO:0014537",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014537",
            "name": "NPHP19",
            "description": ""
        },
        {
            "id": "MONDO:0014537",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014537",
            "name": "nephronophthisis (disease) caused by mutation in DCDC2",
            "description": ""
        },
        {
            "id": "MONDO:0014537",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014537",
            "name": "nephronophthisis 19",
            "description": ""
        },
        {
            "id": "MONDO:0014537",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014537",
            "name": "nephronophthisis type 19",
            "description": ""
        },
        {
            "id": "MIM:616217",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616217",
            "name": "Nephronophthisis 19",
            "description": "Nephronophthisis 19"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111126"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111126",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111126",
            "categories": []
        },
        {
            "id": "MONDO:0014537",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014537",
            "categories": []
        },
        {
            "id": "MIM:616217",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616217",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q5DU00-1",
            "uniprot_ac": "Q5DU00",
            "uniprot_id": "DCDC2_MOUSE",
            "refseq_ac": "NP_001182546",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Doublecortin domain-containing protein 2",
                    "type": "recommended"
                },
                {
                    "name": "doublecortin domain-containing protein 2 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "doublecortin domain-containing protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dcdc2a",
                    "type": "recommended"
                },
                {
                    "name": "Dcdc2",
                    "type": "recommended"
                },
                {
                    "name": "AW492955",
                    "type": "synonym"
                },
                {
                    "name": "Dcdc2a",
                    "type": "synonym"
                },
                {
                    "name": "Dcdc2",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa1154",
                    "type": "synonym"
                },
                {
                    "name": "RU2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5DU00-1",
            "evidence": [
                {
                    "id": "0111126",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111126"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9UHG0-1",
            "uniprot_ac": "Q9UHG0",
            "uniprot_id": "DCDC2_HUMAN",
            "refseq_ac": "NP_001182539",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Doublecortin domain-containing protein 2",
                    "type": "recommended"
                },
                {
                    "name": "Protein RU2S",
                    "type": "synonym"
                },
                {
                    "name": "doublecortin domain-containing protein 2",
                    "type": "synonym"
                },
                {
                    "name": "nephronophthisis 19",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DCDC2",
                    "type": "recommended"
                },
                {
                    "name": "DCDC2A",
                    "type": "synonym"
                },
                {
                    "name": "DCDC2",
                    "type": "synonym"
                },
                {
                    "name": "DFNB66",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1154",
                    "type": "synonym"
                },
                {
                    "name": "NPHP19",
                    "type": "synonym"
                },
                {
                    "name": "NSC",
                    "type": "synonym"
                },
                {
                    "name": "RU2S",
                    "type": "synonym"
                },
                {
                    "name": "RU2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9UHG0-1",
            "evidence": [
                {
                    "id": "616217",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616217"
                },
                {
                    "id": "0111126",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111126"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZR10-1",
            "uniprot_ac": "D3ZR10",
            "uniprot_id": "DCDC2_RAT",
            "refseq_ac": "NP_001099580",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Doublecortin domain-containing protein 2",
                    "type": "recommended"
                },
                {
                    "name": "doublecortin domain containing 2",
                    "type": "synonym"
                },
                {
                    "name": "doublecortin domain-containing protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dcdc2",
                    "type": "recommended"
                },
                {
                    "name": "Dcdc2a",
                    "type": "synonym"
                },
                {
                    "name": "Dcdc2",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZR10-1",
            "evidence": [
                {
                    "id": "0111126",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111126"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111126"
}