{
    "disease_id": "DOID:0111806",
    "recommended_name": {
        "id": "DOID:0111806",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111806",
        "name": "syndromic microphthalmia 5",
        "description": "A syndromic microphthalmia characterized by unilateral or bilateral microphthalmia or clinical anophthalmia and variable additional features that has_material_basis_in heterozygous mutation in the OTX2 gene on chromosome 14q22.3."
    },
    "synonyms": [
        {
            "id": "DOID:0111806",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111806",
            "name": "MCOPS5",
            "description": ""
        },
        {
            "id": "DOID:0111806",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111806",
            "name": "syndromic microphthalmia type 5",
            "description": ""
        },
        {
            "id": "DOID:0111806",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111806",
            "name": "syndromic microphthalmia/anophthalmia due to OTX2 mutation",
            "description": ""
        },
        {
            "id": "MONDO:0012413",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012413",
            "name": "syndromic microphthalmia type 5",
            "description": "Syndromic microphthalmia, type 5 is characterized by the association of a range of ocular anomalies (anophthalmia, microphthalmia and retinal abnormalities) with variable developmental delay and central nervous system malformations."
        },
        {
            "id": "MONDO:0012413",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012413",
            "name": "MCOPS5",
            "description": ""
        },
        {
            "id": "MONDO:0012413",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012413",
            "name": "OTX2 syndromic microphthalmia",
            "description": ""
        },
        {
            "id": "MONDO:0012413",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012413",
            "name": "microphthalmia, syndromic type 5",
            "description": ""
        },
        {
            "id": "MONDO:0012413",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012413",
            "name": "syndromic microphthalmia caused by mutation in OTX2",
            "description": ""
        },
        {
            "id": "MONDO:0012413",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012413",
            "name": "syndromic microphthalmia type 5",
            "description": ""
        },
        {
            "id": "MONDO:0012413",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012413",
            "name": "syndromic microphthalmia/anophthalmia due to OTX2 mutation",
            "description": ""
        },
        {
            "id": "MONDO:0012413",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012413",
            "name": "OTX2-related eye disorders",
            "description": ""
        },
        {
            "id": "MONDO:0012413",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012413",
            "name": "microphthalmia syndromic 5",
            "description": ""
        },
        {
            "id": "MONDO:0012413",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012413",
            "name": "microphthalmia, syndromic 5",
            "description": ""
        },
        {
            "id": "MIM:610125",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/610125",
            "name": "Retinal dystrophy, early-onset, with or without pituitary dysfunction",
            "description": "Retinal dystrophy, early-onset, with or without pituitary dysfunction"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111806"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111806",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111806",
            "categories": []
        },
        {
            "id": "MONDO:0012413",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012413",
            "categories": []
        },
        {
            "id": "MIM:610125",
            "database": "MIM",
            "url": "https://www.omim.org/entry/610125",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q91981-1",
            "uniprot_ac": "Q91981",
            "uniprot_id": "OTX2_DANRE",
            "refseq_ac": "NP_571326",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Homeobox protein OTX2",
                    "type": "recommended"
                },
                {
                    "name": "Orthodenticle homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "etID309955.17",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein OTX2",
                    "type": "synonym"
                },
                {
                    "name": "orthodenticle homeobox 2",
                    "type": "synonym"
                },
                {
                    "name": "orthodenticle homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "zOTX2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "otx2",
                    "type": "recommended"
                },
                {
                    "name": "id:ibd2915",
                    "type": "synonym"
                },
                {
                    "name": "otx2b",
                    "type": "synonym"
                },
                {
                    "name": "otx2",
                    "type": "synonym"
                },
                {
                    "name": "zOtx2",
                    "type": "synonym"
                },
                {
                    "name": "zgc:136535",
                    "type": "synonym"
                },
                {
                    "name": "zotx-2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q91981-1",
            "evidence": [
                {
                    "id": "0111806",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111806"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P80206-1",
            "uniprot_ac": "P80206",
            "uniprot_id": "OTX2_MOUSE",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Homeobox protein OTX2",
                    "type": "recommended"
                },
                {
                    "name": "Orthodenticle homolog 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Otx2",
                    "type": "recommended"
                },
                {
                    "name": "Otx-2",
                    "type": "synonym"
                }
            ],
            "record_id": "P80206-1",
            "evidence": [
                {
                    "id": "0111806",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111806"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P32243-1",
            "uniprot_ac": "P32243",
            "uniprot_id": "OTX2_HUMAN",
            "refseq_ac": "NP_001257452",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Homeobox protein OTX2",
                    "type": "recommended"
                },
                {
                    "name": "Orthodenticle homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein OTX2 isoform b",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein OTX2",
                    "type": "synonym"
                },
                {
                    "name": "orthodenticle homolog 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "OTX2",
                    "type": "recommended"
                },
                {
                    "name": "CPHD6",
                    "type": "synonym"
                },
                {
                    "name": "MCOPS5",
                    "type": "synonym"
                },
                {
                    "name": "OTX2",
                    "type": "synonym"
                }
            ],
            "record_id": "P32243-1",
            "evidence": [
                {
                    "id": "610125",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/610125"
                },
                {
                    "id": "0111806",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111806"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q64201-1",
            "uniprot_ac": "Q64201",
            "uniprot_id": "OTX2_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": "Homeobox protein OTX2",
                    "type": "recommended"
                },
                {
                    "name": "Orthodenticle homolog 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Otx2",
                    "type": "recommended"
                }
            ],
            "record_id": "Q64201-1",
            "evidence": [
                {
                    "id": "0111806",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111806"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P22810-1",
            "uniprot_ac": "P22810",
            "uniprot_id": "HMOC_DROME",
            "refseq_ac": "NP_001014727",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Homeotic protein ocelliless",
                    "type": "recommended"
                },
                {
                    "name": "CG12154-PC",
                    "type": "synonym"
                },
                {
                    "name": "Protein orthodenticle",
                    "type": "synonym"
                },
                {
                    "name": "oc-PC",
                    "type": "synonym"
                },
                {
                    "name": "ocelliless, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "ocelliless",
                    "type": "synonym"
                },
                {
                    "name": "orthodentical",
                    "type": "synonym"
                },
                {
                    "name": "orthodenticle",
                    "type": "synonym"
                },
                {
                    "name": "uvi-insensitive",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "oc",
                    "type": "recommended"
                },
                {
                    "name": "CG12154",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG12154",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG12154",
                    "type": "synonym"
                },
                {
                    "name": "OC",
                    "type": "synonym"
                },
                {
                    "name": "Oc",
                    "type": "synonym"
                },
                {
                    "name": "Otd",
                    "type": "synonym"
                },
                {
                    "name": "Otx",
                    "type": "synonym"
                },
                {
                    "name": "l(1)7Ff",
                    "type": "synonym"
                },
                {
                    "name": "l(1)8Ac",
                    "type": "synonym"
                },
                {
                    "name": "oc2",
                    "type": "synonym"
                },
                {
                    "name": "oc",
                    "type": "synonym"
                },
                {
                    "name": "orthodenticle",
                    "type": "synonym"
                },
                {
                    "name": "ort",
                    "type": "synonym"
                },
                {
                    "name": "otd",
                    "type": "synonym"
                },
                {
                    "name": "uvi",
                    "type": "synonym"
                }
            ],
            "record_id": "P22810-1",
            "evidence": [
                {
                    "id": "0111806",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111806"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111806"
}