{
    "disease_id": "DOID:0060839",
    "recommended_name": {
        "id": "DOID:0060839",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060839",
        "name": "isolated microphthalmia 2",
        "description": "An isolated microphthalmia characterized by autosomal recessive inheritance of bilateral profound microphthalmia without associated anomalies and with normal intelligence that has_material_basis_in homozygous mutation in the CHX10 gene on chromosome 14q24."
    },
    "synonyms": [
        {
            "id": "DOID:0060839",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060839",
            "name": "MCOP2",
            "description": ""
        },
        {
            "id": "MONDO:0012409",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012409",
            "name": "isolated microphthalmia 2",
            "description": "Any isolated microphthalmia in which the cause of the disease is a mutation in the VSX2 gene."
        },
        {
            "id": "MONDO:0012409",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012409",
            "name": "MCOP2",
            "description": ""
        },
        {
            "id": "MONDO:0012409",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012409",
            "name": "VSX2 isolated microphthalmia",
            "description": ""
        },
        {
            "id": "MONDO:0012409",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012409",
            "name": "isolated microphthalmia caused by mutation in VSX2",
            "description": ""
        },
        {
            "id": "MONDO:0012409",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012409",
            "name": "isolated microphthalmia type 2",
            "description": ""
        },
        {
            "id": "MONDO:0012409",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012409",
            "name": "microphthalmia, isolated type 2",
            "description": ""
        },
        {
            "id": "MONDO:0012409",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012409",
            "name": "microphthalmia, isolated 2",
            "description": ""
        },
        {
            "id": "MIM:610093",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/610093",
            "name": "Microphthalmia, isolated, 2",
            "description": "Microphthalmia, isolated, 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060839"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060839",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060839",
            "categories": []
        },
        {
            "id": "MONDO:0012409",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012409",
            "categories": []
        },
        {
            "id": "MIM:610093",
            "database": "MIM",
            "url": "https://www.omim.org/entry/610093",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "O42477-1",
            "uniprot_ac": "O42477",
            "uniprot_id": "VSX2_DANRE",
            "refseq_ac": "NP_571537",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Visual system homeobox 2",
                    "type": "recommended"
                },
                {
                    "name": "Ceh-10 homeodomain-containing homolog",
                    "type": "synonym"
                },
                {
                    "name": "Homeobox protein ALX",
                    "type": "synonym"
                },
                {
                    "name": "Homeobox protein CHX10",
                    "type": "synonym"
                },
                {
                    "name": "Transcription factor VSX2",
                    "type": "synonym"
                },
                {
                    "name": "ceh-10 homeodomain containing homolog",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein ALX",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein CHX10",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor VSX2",
                    "type": "synonym"
                },
                {
                    "name": "visual system homeobox 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "vsx2",
                    "type": "recommended"
                },
                {
                    "name": "Vsx-2",
                    "type": "synonym"
                },
                {
                    "name": "alx",
                    "type": "synonym"
                },
                {
                    "name": "chx10",
                    "type": "synonym"
                },
                {
                    "name": "vsx2",
                    "type": "synonym"
                }
            ],
            "record_id": "O42477-1",
            "evidence": [
                {
                    "id": "0060839",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060839"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q61412-1",
            "uniprot_ac": "Q61412",
            "uniprot_id": "VSX2_MOUSE",
            "refseq_ac": "NP_031727",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Visual system homeobox 2",
                    "type": "recommended"
                },
                {
                    "name": "C. elegans ceh-10 homeo domain containing homolog",
                    "type": "synonym"
                },
                {
                    "name": "Ceh-10 homeodomain-containing homolog",
                    "type": "synonym"
                },
                {
                    "name": "Homeobox protein CHX10",
                    "type": "synonym"
                },
                {
                    "name": "ceh-10 homeodomain-containing homolog",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein CHX10",
                    "type": "synonym"
                },
                {
                    "name": "ocular retardation",
                    "type": "synonym"
                },
                {
                    "name": "visual system homeobox 2 isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Vsx2",
                    "type": "recommended"
                },
                {
                    "name": "Chx10",
                    "type": "synonym"
                },
                {
                    "name": "Hox-10",
                    "type": "synonym"
                },
                {
                    "name": "Hox10",
                    "type": "synonym"
                },
                {
                    "name": "Vsx2",
                    "type": "synonym"
                },
                {
                    "name": "or",
                    "type": "synonym"
                }
            ],
            "record_id": "Q61412-1",
            "evidence": [
                {
                    "id": "0060839",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060839"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P58304-1",
            "uniprot_ac": "P58304",
            "uniprot_id": "VSX2_HUMAN",
            "refseq_ac": "NP_878314",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Visual system homeobox 2",
                    "type": "recommended"
                },
                {
                    "name": "Ceh-10 homeodomain-containing homolog",
                    "type": "synonym"
                },
                {
                    "name": "Homeobox protein CHX10",
                    "type": "synonym"
                },
                {
                    "name": "ceh-10 homeo domain containing homolog",
                    "type": "synonym"
                },
                {
                    "name": "ceh-10 homeodomain-containing homolog",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein CHX10",
                    "type": "synonym"
                },
                {
                    "name": "visual system homeobox 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "VSX2",
                    "type": "recommended"
                },
                {
                    "name": "CHX10",
                    "type": "synonym"
                },
                {
                    "name": "HOX10",
                    "type": "synonym"
                },
                {
                    "name": "MCOP2",
                    "type": "synonym"
                },
                {
                    "name": "MCOPCB3",
                    "type": "synonym"
                },
                {
                    "name": "RET1",
                    "type": "synonym"
                },
                {
                    "name": "VSX2",
                    "type": "synonym"
                }
            ],
            "record_id": "P58304-1",
            "evidence": [
                {
                    "id": "610093",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/610093"
                },
                {
                    "id": "0060839",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060839"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "G3V7K0-1",
            "uniprot_ac": "G3V7K0",
            "uniprot_id": "G3V7K0_RAT",
            "refseq_ac": "NP_001162599",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Visual system homeobox 2",
                    "type": "recommended"
                },
                {
                    "name": "Ceh-10 homeodomain-containing homolog",
                    "type": "synonym"
                },
                {
                    "name": "Homeobox protein CHX10",
                    "type": "synonym"
                },
                {
                    "name": "ceh-10 homeo domain containing homolog",
                    "type": "synonym"
                },
                {
                    "name": "visual system homeobox 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Vsx2",
                    "type": "recommended"
                },
                {
                    "name": "Chx10",
                    "type": "synonym"
                },
                {
                    "name": "Vsx2",
                    "type": "synonym"
                }
            ],
            "record_id": "G3V7K0-1",
            "evidence": [
                {
                    "id": "0060839",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060839"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "X2JDS9-1",
            "uniprot_ac": "X2JDS9",
            "uniprot_id": "X2JDS9_DROME",
            "refseq_ac": "NP_001284897",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Visual system homeobox 2",
                    "type": "recommended"
                },
                {
                    "name": "CG33980-PB",
                    "type": "synonym"
                },
                {
                    "name": "Ceh-10 homeodomain-containing homolog",
                    "type": "synonym"
                },
                {
                    "name": "Chx2",
                    "type": "synonym"
                },
                {
                    "name": "Homeobox protein CHX10",
                    "type": "synonym"
                },
                {
                    "name": "Vsx2-PB",
                    "type": "synonym"
                },
                {
                    "name": "visual system homeobox 2 ortholog",
                    "type": "synonym"
                },
                {
                    "name": "visual system homeobox 2, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Vsx2",
                    "type": "recommended"
                },
                {
                    "name": "CG15781",
                    "type": "synonym"
                },
                {
                    "name": "CG15782",
                    "type": "synonym"
                },
                {
                    "name": "CG15783",
                    "type": "synonym"
                },
                {
                    "name": "CG33980",
                    "type": "synonym"
                },
                {
                    "name": "Chx2",
                    "type": "synonym"
                },
                {
                    "name": "DChx2",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG33980",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG33980",
                    "type": "synonym"
                },
                {
                    "name": "Vsx2",
                    "type": "synonym"
                },
                {
                    "name": "Vsx",
                    "type": "synonym"
                },
                {
                    "name": "dChx2",
                    "type": "synonym"
                },
                {
                    "name": "dVsx2",
                    "type": "synonym"
                },
                {
                    "name": "vsx2",
                    "type": "synonym"
                }
            ],
            "record_id": "X2JDS9-1",
            "evidence": [
                {
                    "id": "0060839",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060839"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W4B2-1",
            "uniprot_ac": "Q9W4B2",
            "uniprot_id": "Q9W4B2_DROME",
            "refseq_ac": "NP_001284898",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG4136-PB",
                    "type": "synonym"
                },
                {
                    "name": "Chx1",
                    "type": "synonym"
                },
                {
                    "name": "Visual system homeobox 1, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "Visual system homeobox 1, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "Vsx1-PB",
                    "type": "synonym"
                },
                {
                    "name": "visual system homeobox 1 ortholog",
                    "type": "synonym"
                },
                {
                    "name": "visual system homeobox 1, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Vsx1",
                    "type": "recommended"
                },
                {
                    "name": "CG4136",
                    "type": "synonym"
                },
                {
                    "name": "Chx1",
                    "type": "synonym"
                },
                {
                    "name": "DChx1",
                    "type": "synonym"
                },
                {
                    "name": "DVSX1",
                    "type": "synonym"
                },
                {
                    "name": "Dchx1",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4136",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG4136",
                    "type": "synonym"
                },
                {
                    "name": "Vsx-1",
                    "type": "synonym"
                },
                {
                    "name": "Vsx1",
                    "type": "synonym"
                },
                {
                    "name": "Vsx",
                    "type": "synonym"
                },
                {
                    "name": "dChx1",
                    "type": "synonym"
                },
                {
                    "name": "dVsx1",
                    "type": "synonym"
                },
                {
                    "name": "lincRNA.S8688",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W4B2-1",
            "evidence": [
                {
                    "id": "0060839",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060839"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060839"
}