{
    "disease_id": "DOID:0070532",
    "recommended_name": {
        "id": "DOID:0070532",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070532",
        "name": "aniridia 1",
        "description": "An aniridia that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13. Additional ocular anomalies are also common."
    },
    "synonyms": [
        {
            "id": "MONDO:0024507",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024507",
            "name": "aniridia 1",
            "description": ""
        },
        {
            "id": "MONDO:0024507",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024507",
            "name": "aniridia",
            "description": ""
        },
        {
            "id": "MONDO:0024507",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024507",
            "name": "AN1",
            "description": ""
        },
        {
            "id": "MONDO:0024507",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024507",
            "name": "aniridia 1",
            "description": ""
        },
        {
            "id": "MONDO:0024507",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024507",
            "name": "cataract with late-onset corneal dystrophy",
            "description": ""
        },
        {
            "id": "MIM:106210",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/106210",
            "name": "Aniridia 1",
            "description": "Aniridia 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070532"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070532",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070532",
            "categories": []
        },
        {
            "id": "MONDO:0024507",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024507",
            "categories": []
        },
        {
            "id": "MIM:106210",
            "database": "MIM",
            "url": "https://www.omim.org/entry/106210",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P26630-1",
            "uniprot_ac": "P26630",
            "uniprot_id": "PAX6_DANRE",
            "refseq_ac": "NP_571379",
            "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-6",
                    "type": "recommended"
                },
                {
                    "name": "Pax[Zf-a]",
                    "type": "synonym"
                },
                {
                    "name": "etID309716.25",
                    "type": "synonym"
                },
                {
                    "name": "paired box gene 6a",
                    "type": "synonym"
                },
                {
                    "name": "paired box homeotic gene 6",
                    "type": "synonym"
                },
                {
                    "name": "paired box protein Pax-6",
                    "type": "synonym"
                },
                {
                    "name": "paired box protein Pax[Zf-a]",
                    "type": "synonym"
                },
                {
                    "name": "pax-6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "pax6a",
                    "type": "recommended"
                },
                {
                    "name": "PAXZF-A",
                    "type": "synonym"
                },
                {
                    "name": "Pax6.1",
                    "type": "synonym"
                },
                {
                    "name": "cb280",
                    "type": "synonym"
                },
                {
                    "name": "fc20e07",
                    "type": "synonym"
                },
                {
                    "name": "pax-a",
                    "type": "synonym"
                },
                {
                    "name": "pax6a",
                    "type": "synonym"
                },
                {
                    "name": "pax6",
                    "type": "synonym"
                },
                {
                    "name": "pax[zf-a]",
                    "type": "synonym"
                },
                {
                    "name": "paxzf-a",
                    "type": "synonym"
                },
                {
                    "name": "paxzfa",
                    "type": "synonym"
                },
                {
                    "name": "si:dkeyp-46c10.1",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc20e07",
                    "type": "synonym"
                },
                {
                    "name": "zfpax-6a",
                    "type": "synonym"
                },
                {
                    "name": "zfpax-6b",
                    "type": "synonym"
                }
            ],
            "record_id": "P26630-1",
            "evidence": [
                {
                    "id": "0070532",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070532"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0R4IQL7-1",
            "uniprot_ac": "A0A0R4IQL7",
            "uniprot_id": "A0A0R4IQL7_DANRE",
            "refseq_ac": "XP_005168876",
            "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-6",
                    "type": "recommended"
                },
                {
                    "name": "paired box protein Pax-6b isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "pax6b",
                    "type": "recommended"
                },
                {
                    "name": "Pax6.2",
                    "type": "synonym"
                },
                {
                    "name": "cb566",
                    "type": "synonym"
                },
                {
                    "name": "fc09c10",
                    "type": "synonym"
                },
                {
                    "name": "id:ibd5095",
                    "type": "synonym"
                },
                {
                    "name": "pax6b",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc09c10",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc33g08",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0R4IQL7-1",
            "evidence": [
                {
                    "id": "0070532",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070532"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P63015-1",
            "uniprot_ac": "P63015",
            "uniprot_id": "PAX6_MOUSE",
            "refseq_ac": "NP_001231127",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Paired box protein Pax-6",
                    "type": "recommended"
                },
                {
                    "name": "Dickie's small eye",
                    "type": "synonym"
                },
                {
                    "name": "Oculorhombin",
                    "type": "synonym"
                },
                {
                    "name": "oculorhombin",
                    "type": "synonym"
                },
                {
                    "name": "paired box gene 6",
                    "type": "synonym"
                },
                {
                    "name": "paired box protein Pax-6 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "paired box protein Pax-6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pax6",
                    "type": "recommended"
                },
                {
                    "name": "1500038E17Rik",
                    "type": "synonym"
                },
                {
                    "name": "AEY11",
                    "type": "synonym"
                },
                {
                    "name": "Dey",
                    "type": "synonym"
                },
                {
                    "name": "Gsfaey11",
                    "type": "synonym"
                },
                {
                    "name": "Pax-6",
                    "type": "synonym"
                },
                {
                    "name": "Pax6",
                    "type": "synonym"
                },
                {
                    "name": "Sey",
                    "type": "synonym"
                }
            ],
            "record_id": "P63015-1",
            "evidence": [
                {
                    "id": "0070532",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070532"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P26367-1",
            "uniprot_ac": "P26367",
            "uniprot_id": "PAX6_HUMAN",
            "refseq_ac": "NP_000271",
            "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-6",
                    "type": "recommended"
                },
                {
                    "name": "Aniridia 1",
                    "type": "synonym"
                },
                {
                    "name": "Aniridia 2",
                    "type": "synonym"
                },
                {
                    "name": "Aniridia type II protein",
                    "type": "synonym"
                },
                {
                    "name": "Oculorhombin",
                    "type": "synonym"
                },
                {
                    "name": "alternative protein PAX6",
                    "type": "synonym"
                },
                {
                    "name": "aniridia type II protein",
                    "type": "synonym"
                },
                {
                    "name": "oculorhombin",
                    "type": "synonym"
                },
                {
                    "name": "paired box 6 PAX6-12a isoform",
                    "type": "synonym"
                },
                {
                    "name": "paired box 6 PAX6A-ASdel6 isoform",
                    "type": "synonym"
                },
                {
                    "name": "paired box 6 PAX6A-ASdel6-AS7 isoform",
                    "type": "synonym"
                },
                {
                    "name": "paired box 6 PAX6A-del6 isoform",
                    "type": "synonym"
                },
                {
                    "name": "paired box 6 PAX6B-ASdel6 isoform",
                    "type": "synonym"
                },
                {
                    "name": "paired box 6 PAX6D isoform",
                    "type": "synonym"
                },
                {
                    "name": "paired box homeotic gene-6",
                    "type": "synonym"
                },
                {
                    "name": "paired box protein Pax-6 isoform a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PAX6",
                    "type": "recommended"
                },
                {
                    "name": "AN1",
                    "type": "synonym"
                },
                {
                    "name": "AN2",
                    "type": "synonym"
                },
                {
                    "name": "AN",
                    "type": "synonym"
                },
                {
                    "name": "ASGD5",
                    "type": "synonym"
                },
                {
                    "name": "D11S812E",
                    "type": "synonym"
                },
                {
                    "name": "FVH1",
                    "type": "synonym"
                },
                {
                    "name": "MGDA",
                    "type": "synonym"
                },
                {
                    "name": "PAX6",
                    "type": "synonym"
                },
                {
                    "name": "WAGR",
                    "type": "synonym"
                }
            ],
            "record_id": "P26367-1",
            "evidence": [
                {
                    "id": "106210",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/106210"
                },
                {
                    "id": "0070532",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070532"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P63016-1",
            "uniprot_ac": "P63016",
            "uniprot_id": "PAX6_RAT",
            "refseq_ac": "NP_037133",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Paired box protein Pax-6",
                    "type": "recommended"
                },
                {
                    "name": "Oculorhombin",
                    "type": "synonym"
                },
                {
                    "name": "oculorhombin",
                    "type": "synonym"
                },
                {
                    "name": "paired box gene 6",
                    "type": "synonym"
                },
                {
                    "name": "paired box homeotic gene 6",
                    "type": "synonym"
                },
                {
                    "name": "paired box protein Pax-6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pax6",
                    "type": "recommended"
                },
                {
                    "name": "Pax-6",
                    "type": "synonym"
                },
                {
                    "name": "Pax6",
                    "type": "synonym"
                },
                {
                    "name": "Sey",
                    "type": "synonym"
                }
            ],
            "record_id": "P63016-1",
            "evidence": [
                {
                    "id": "0070532",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070532"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A6H2EG63-1",
            "uniprot_ac": "A0A6H2EG63",
            "uniprot_id": "A0A6H2EG63_DROME",
            "refseq_ac": "NP_001368990",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG11186-PD",
                    "type": "synonym"
                },
                {
                    "name": "Twin of eyeless, isoform D",
                    "type": "synonym"
                },
                {
                    "name": "lethal(4)102CDg",
                    "type": "synonym"
                },
                {
                    "name": "toy-PD",
                    "type": "synonym"
                },
                {
                    "name": "twin of eyeless, isoform D",
                    "type": "synonym"
                },
                {
                    "name": "twin of eyeless",
                    "type": "synonym"
                },
                {
                    "name": "twin-of-eyeless",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "toy",
                    "type": "recommended"
                },
                {
                    "name": "CG11186",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG11186",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG11186",
                    "type": "synonym"
                },
                {
                    "name": "Pax-6",
                    "type": "synonym"
                },
                {
                    "name": "TOY",
                    "type": "synonym"
                },
                {
                    "name": "Toy",
                    "type": "synonym"
                },
                {
                    "name": "l(4)102CDg",
                    "type": "synonym"
                },
                {
                    "name": "l(4)8",
                    "type": "synonym"
                },
                {
                    "name": "toy",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A6H2EG63-1",
            "evidence": [
                {
                    "id": "0070532",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070532"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P49770-1",
            "uniprot_ac": "P49770",
            "uniprot_id": "EI2BB_HUMAN",
            "refseq_ac": "NP_055054",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Translation initiation factor eIF2B subunit beta",
                    "type": "recommended"
                },
                {
                    "name": "S20I15",
                    "type": "synonym"
                },
                {
                    "name": "S20III15",
                    "type": "synonym"
                },
                {
                    "name": "eIF-2B GDP-GTP exchange factor subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "eIF2B GDP-GTP exchange factor subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa",
                    "type": "synonym"
                },
                {
                    "name": "translation initiation factor eIF-2B subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "translation initiation factor eIF2B subunit beta",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "EIF2B2",
                    "type": "recommended"
                },
                {
                    "name": "EIF-2Bbeta",
                    "type": "synonym"
                },
                {
                    "name": "EIF2B2",
                    "type": "synonym"
                },
                {
                    "name": "EIF2BB",
                    "type": "synonym"
                },
                {
                    "name": "EIF2Bbeta",
                    "type": "synonym"
                },
                {
                    "name": "EIF2B",
                    "type": "synonym"
                },
                {
                    "name": "VWM2",
                    "type": "synonym"
                }
            ],
            "record_id": "P49770-1",
            "evidence": [
                {
                    "id": "0070532",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070532"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070532"
}