{
    "disease_id": "DOID:0080635",
    "recommended_name": {
        "id": "DOID:0080635",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080635",
        "name": "optic disc anomalies with retinal and/or macular dystrophy",
        "description": "A microphthalmia that has_material_basis_in homozygous mutation in the SIX6 gene on chromosome 14q23."
    },
    "synonyms": [
        {
            "id": "MONDO:0008927",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008927",
            "name": "colobomatous optic disc-macular atrophy-chorioretinopathy syndrome",
            "description": "A rare genetic eye disease characterized by optic disk anomalies (bilateral colobomatous optic disks, retinal vessels arising from the peripheral optic disk) and macular atrophy. Peripapillary chorioretinal atrophy and chorioretinal and iris coloboma have also been described. Patients present with horizontal nystagmus and poor visual acuity."
        },
        {
            "id": "MONDO:0008927",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008927",
            "name": "ODRMD",
            "description": ""
        },
        {
            "id": "MONDO:0008927",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008927",
            "name": "optic DISC anomalies with retinal and/or macular dystrophy",
            "description": ""
        },
        {
            "id": "MIM:212550",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/212550",
            "name": "Optic disk anomalies with retinal and/or macular dystrophy",
            "description": "Optic disk anomalies with retinal and/or macular dystrophy"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080635"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080635",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080635",
            "categories": []
        },
        {
            "id": "MONDO:0008927",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008927",
            "categories": []
        },
        {
            "id": "MIM:212550",
            "database": "MIM",
            "url": "https://www.omim.org/entry/212550",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AC58H0Q3-1",
            "uniprot_ac": "A0AC58H0Q3",
            "uniprot_id": "A0AC58H0Q3_DANRE",
            "refseq_ac": "XP_073775556",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Homeobox protein SIX6a isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein SIX6a isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "six6a",
                    "type": "recommended"
                },
                {
                    "name": "Six6",
                    "type": "synonym"
                },
                {
                    "name": "six6a",
                    "type": "synonym"
                },
                {
                    "name": "zgc:63871",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AC58H0Q3-1",
            "evidence": [
                {
                    "id": "0080635",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080635"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9QZ28-1",
            "uniprot_ac": "Q9QZ28",
            "uniprot_id": "SIX6_MOUSE",
            "refseq_ac": "NP_035514",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Homeobox protein SIX6",
                    "type": "recommended"
                },
                {
                    "name": "Optic homeobox 2",
                    "type": "synonym"
                },
                {
                    "name": "Sine oculis homeobox homolog 6",
                    "type": "synonym"
                },
                {
                    "name": "Six9 protein",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein SIX6",
                    "type": "synonym"
                },
                {
                    "name": "optic homeobox 2",
                    "type": "synonym"
                },
                {
                    "name": "sine oculis homeobox homolog 6",
                    "type": "synonym"
                },
                {
                    "name": "sine oculis-related homeobox 6 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Six6",
                    "type": "recommended"
                },
                {
                    "name": "Optx2",
                    "type": "synonym"
                },
                {
                    "name": "Six6",
                    "type": "synonym"
                },
                {
                    "name": "Six9",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9QZ28-1",
            "evidence": [
                {
                    "id": "0080635",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080635"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O95475-1",
            "uniprot_ac": "O95475",
            "uniprot_id": "SIX6_HUMAN",
            "refseq_ac": "NP_031400",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Homeobox protein SIX6",
                    "type": "recommended"
                },
                {
                    "name": "Homeodomain protein OPTX2",
                    "type": "synonym"
                },
                {
                    "name": "Optic homeobox 2",
                    "type": "synonym"
                },
                {
                    "name": "Sine oculis homeobox homolog 6",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein SIX6",
                    "type": "synonym"
                },
                {
                    "name": "homeodomain protein OPTX2",
                    "type": "synonym"
                },
                {
                    "name": "optic homeobox 2",
                    "type": "synonym"
                },
                {
                    "name": "sine oculis homeobox homolog 6",
                    "type": "synonym"
                },
                {
                    "name": "sine oculis homeobox protein 6",
                    "type": "synonym"
                },
                {
                    "name": "sine oculis homeobox-like protein 6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SIX6",
                    "type": "recommended"
                },
                {
                    "name": "MCOPCT2",
                    "type": "synonym"
                },
                {
                    "name": "ODRMD",
                    "type": "synonym"
                },
                {
                    "name": "OPTX2",
                    "type": "synonym"
                },
                {
                    "name": "SIX6",
                    "type": "synonym"
                },
                {
                    "name": "SIX9",
                    "type": "synonym"
                },
                {
                    "name": "Six9",
                    "type": "synonym"
                }
            ],
            "record_id": "O95475-1",
            "evidence": [
                {
                    "id": "212550",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/212550"
                },
                {
                    "id": "0080635",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080635"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZCC7-1",
            "uniprot_ac": "D3ZCC7",
            "uniprot_id": "D3ZCC7_RAT",
            "refseq_ac": "NP_001101502",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "SIX homeobox 6",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein SIX6",
                    "type": "synonym"
                },
                {
                    "name": "sine oculis-related homeobox 6 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Six6",
                    "type": "recommended"
                },
                {
                    "name": "Six6",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZCC7-1",
            "evidence": [
                {
                    "id": "0080635",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080635"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q95RW8-1",
            "uniprot_ac": "Q95RW8",
            "uniprot_id": "OPTIX_DROME",
            "refseq_ac": "NP_524695",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein Optix",
                    "type": "recommended"
                },
                {
                    "name": "CG18455-PA",
                    "type": "synonym"
                },
                {
                    "name": "D-Six3",
                    "type": "synonym"
                },
                {
                    "name": "Homeobox protein SIX3",
                    "type": "synonym"
                },
                {
                    "name": "Optix-PA",
                    "type": "synonym"
                },
                {
                    "name": "optix, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "optix",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Optix",
                    "type": "recommended"
                },
                {
                    "name": "CG18455",
                    "type": "synonym"
                },
                {
                    "name": "D-Six3",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG18455",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG18455",
                    "type": "synonym"
                },
                {
                    "name": "Dsix3",
                    "type": "synonym"
                },
                {
                    "name": "OPTIX",
                    "type": "synonym"
                },
                {
                    "name": "Optix",
                    "type": "synonym"
                },
                {
                    "name": "Six3",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0153538.79",
                    "type": "synonym"
                },
                {
                    "name": "optix",
                    "type": "synonym"
                },
                {
                    "name": "opt",
                    "type": "synonym"
                },
                {
                    "name": "opx",
                    "type": "synonym"
                },
                {
                    "name": "six3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q95RW8-1",
            "evidence": [
                {
                    "id": "0080635",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080635"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080635"
}