{
    "disease_id": "DOID:0090006",
    "recommended_name": {
        "id": "DOID:0090006",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0090006",
        "name": "renal coloboma syndrome",
        "description": "A syndrome characterized by optic nerve coloboma and renal disease that has_material_basis_in heterozygous mutation in the PAX2 gene on chromosome 10q24."
    },
    "synonyms": [
        {
            "id": "DOID:0090006",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090006",
            "name": "congenital anomalies of the kidney and urinary tract with or without ocular abnormalities",
            "description": ""
        },
        {
            "id": "DOID:0090006",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090006",
            "name": "CAKUT with or without ocular abnormalities",
            "description": ""
        },
        {
            "id": "DOID:0090006",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090006",
            "name": "papillo-renal syndrome, optic nerve coloboma with renal disease",
            "description": ""
        },
        {
            "id": "DOID:0090006",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090006",
            "name": "optic coloboma, vesicoureteral reflux and renal anomalies",
            "description": ""
        },
        {
            "id": "DOID:0090006",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090006",
            "name": "coloboma of optic nerve with renal disease",
            "description": ""
        },
        {
            "id": "DOID:0090006",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090006",
            "name": "papillorenal syndrome",
            "description": ""
        },
        {
            "id": "DOID:0090006",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090006",
            "name": "renal-coloboma syndrome with macular abnormalities",
            "description": ""
        },
        {
            "id": "MONDO:0007352",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007352",
            "name": "renal coloboma syndrome",
            "description": "Renal coloboma syndrome (RCS) is a genetic condition characterized by optic nerve dysplasia and renal hypodysplasia."
        },
        {
            "id": "MONDO:0007352",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007352",
            "name": "CAKUT with or without ocular abnormalities",
            "description": ""
        },
        {
            "id": "MONDO:0007352",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007352",
            "name": "Papillo-renal syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007352",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007352",
            "name": "coloboma of optic nerve with renal disease",
            "description": ""
        },
        {
            "id": "MONDO:0007352",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007352",
            "name": "congenital anomalies of the kidney and urinary tract with or without ocular abnormalities",
            "description": ""
        },
        {
            "id": "MONDO:0007352",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007352",
            "name": "papillorenal syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007352",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007352",
            "name": "renal-coloboma syndrome with macular abnormalities",
            "description": ""
        },
        {
            "id": "MONDO:0007352",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007352",
            "name": "PAPILLORENAL syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007352",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007352",
            "name": "PAPRS",
            "description": ""
        },
        {
            "id": "MIM:120330",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/120330",
            "name": "Papillorenal syndrome",
            "description": "Papillorenal syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0090006"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0090006",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090006",
            "categories": []
        },
        {
            "id": "MONDO:0007352",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007352",
            "categories": []
        },
        {
            "id": "MIM:120330",
            "database": "MIM",
            "url": "https://www.omim.org/entry/120330",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q90268-1",
            "uniprot_ac": "Q90268",
            "uniprot_id": "PAX2A_DANRE",
            "refseq_ac": "NP_571259",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Paired box protein Pax-2a",
                    "type": "recommended"
                },
                {
                    "name": "No isthmus protein",
                    "type": "synonym"
                },
                {
                    "name": "Pax[Zf-b]",
                    "type": "synonym"
                },
                {
                    "name": "no isthmus protein",
                    "type": "synonym"
                },
                {
                    "name": "paired box gene 2.1",
                    "type": "synonym"
                },
                {
                    "name": "paired box gene 2a",
                    "type": "synonym"
                },
                {
                    "name": "paired box homeotic gene 2a",
                    "type": "synonym"
                },
                {
                    "name": "paired box protein Pax-2a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "pax2a",
                    "type": "recommended"
                },
                {
                    "name": "PAXZF-B",
                    "type": "synonym"
                },
                {
                    "name": "Pax-2",
                    "type": "synonym"
                },
                {
                    "name": "cb378",
                    "type": "synonym"
                },
                {
                    "name": "noi",
                    "type": "synonym"
                },
                {
                    "name": "pax-b",
                    "type": "synonym"
                },
                {
                    "name": "pax2.1",
                    "type": "synonym"
                },
                {
                    "name": "pax2a1",
                    "type": "synonym"
                },
                {
                    "name": "pax2a",
                    "type": "synonym"
                },
                {
                    "name": "pax[zf-b]",
                    "type": "synonym"
                },
                {
                    "name": "paxb",
                    "type": "synonym"
                },
                {
                    "name": "paxzf-b",
                    "type": "synonym"
                }
            ],
            "record_id": "Q90268-1",
            "evidence": [
                {
                    "id": "0090006",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090006"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P32114-1",
            "uniprot_ac": "P32114",
            "uniprot_id": "PAX2_MOUSE",
            "refseq_ac": "NP_035167",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Paired box protein Pax-2",
                    "type": "recommended"
                },
                {
                    "name": "optic disc coloboma",
                    "type": "synonym"
                },
                {
                    "name": "paired box gene 2",
                    "type": "synonym"
                },
                {
                    "name": "paired box protein Pax-2 isoform 7",
                    "type": "synonym"
                },
                {
                    "name": "paired box protein Pax-2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pax2",
                    "type": "recommended"
                },
                {
                    "name": "Opdc",
                    "type": "synonym"
                },
                {
                    "name": "Pax-2",
                    "type": "synonym"
                },
                {
                    "name": "Pax2",
                    "type": "synonym"
                }
            ],
            "record_id": "P32114-1",
            "evidence": [
                {
                    "id": "0090006",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090006"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q02962-1",
            "uniprot_ac": "Q02962",
            "uniprot_id": "PAX2_HUMAN",
            "refseq_ac": "NP_000269",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Paired box protein Pax-2",
                    "type": "recommended"
                },
                {
                    "name": "paired box homeotic gene 2",
                    "type": "synonym"
                },
                {
                    "name": "paired box protein Pax-2 isoform b",
                    "type": "synonym"
                },
                {
                    "name": "paired box protein Pax-2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PAX2",
                    "type": "recommended"
                },
                {
                    "name": "FSGS7",
                    "type": "synonym"
                },
                {
                    "name": "PAPRS",
                    "type": "synonym"
                },
                {
                    "name": "PAX-2",
                    "type": "synonym"
                },
                {
                    "name": "PAX2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q02962-1",
            "evidence": [
                {
                    "id": "120330",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/120330"
                },
                {
                    "id": "0090006",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090006"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LQ26-1",
            "uniprot_ac": "A0ABK0LQ26",
            "uniprot_id": "A0ABK0LQ26_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Paired box 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pax2",
                    "type": "recommended"
                }
            ],
            "record_id": "A0ABK0LQ26-1",
            "evidence": [
                {
                    "id": "0090006",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090006"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O16117-1",
            "uniprot_ac": "O16117",
            "uniprot_id": "O16117_DROME",
            "refseq_ac": "NP_524633",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG11049-PA",
                    "type": "synonym"
                },
                {
                    "name": "Shaven, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "cataract",
                    "type": "synonym"
                },
                {
                    "name": "shaven, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "shaven",
                    "type": "synonym"
                },
                {
                    "name": "sparklin poliert",
                    "type": "synonym"
                },
                {
                    "name": "sparkling poliert",
                    "type": "synonym"
                },
                {
                    "name": "sv-PA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "sv",
                    "type": "recommended"
                },
                {
                    "name": "8",
                    "type": "synonym"
                },
                {
                    "name": "CG11049",
                    "type": "synonym"
                },
                {
                    "name": "Cat",
                    "type": "synonym"
                },
                {
                    "name": "D-Pax2",
                    "type": "synonym"
                },
                {
                    "name": "D-pax-2",
                    "type": "synonym"
                },
                {
                    "name": "D-pax2",
                    "type": "synonym"
                },
                {
                    "name": "DPax-2",
                    "type": "synonym"
                },
                {
                    "name": "DPax2",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG11049",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG11049",
                    "type": "synonym"
                },
                {
                    "name": "Dpax-2",
                    "type": "synonym"
                },
                {
                    "name": "Dpax2",
                    "type": "synonym"
                },
                {
                    "name": "I",
                    "type": "synonym"
                },
                {
                    "name": "PAX2",
                    "type": "synonym"
                },
                {
                    "name": "Pax2/5/8",
                    "type": "synonym"
                },
                {
                    "name": "Pax258",
                    "type": "synonym"
                },
                {
                    "name": "Pax2",
                    "type": "synonym"
                },
                {
                    "name": "Sv",
                    "type": "synonym"
                },
                {
                    "name": "d-Pax2",
                    "type": "synonym"
                },
                {
                    "name": "dPax258",
                    "type": "synonym"
                },
                {
                    "name": "dPax2",
                    "type": "synonym"
                },
                {
                    "name": "en(lz)4G/I",
                    "type": "synonym"
                },
                {
                    "name": "l(4)40",
                    "type": "synonym"
                },
                {
                    "name": "pax2/sparkling",
                    "type": "synonym"
                },
                {
                    "name": "pol",
                    "type": "synonym"
                },
                {
                    "name": "shaven/sparkling",
                    "type": "synonym"
                },
                {
                    "name": "spa-sv",
                    "type": "synonym"
                },
                {
                    "name": "sparkling",
                    "type": "synonym"
                },
                {
                    "name": "spa",
                    "type": "synonym"
                },
                {
                    "name": "sv",
                    "type": "synonym"
                }
            ],
            "record_id": "O16117-1",
            "evidence": [
                {
                    "id": "0090006",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090006"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0090006"
}