{
    "disease_id": "DOID:0111804",
    "recommended_name": {
        "id": "DOID:0111804",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111804",
        "name": "syndromic microphthalmia 11",
        "description": "A syndromic microphthalmia characterized by microphthalmia, cleft lip and palate, and agenesis of the corpus callosum that has_material_basis_in homozygous or compound heterozygous mutation in VAX1 on chromosome 10q25.3."
    },
    "synonyms": [
        {
            "id": "DOID:0111804",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111804",
            "name": "MCOPS11",
            "description": ""
        },
        {
            "id": "MONDO:0013734",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013734",
            "name": "microphthalmia, syndromic 11",
            "description": "Any syndromic microphthalmia in which the cause of the disease is a mutation in the VAX1 gene."
        },
        {
            "id": "MONDO:0013734",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013734",
            "name": "VAX1 syndromic microphthalmia",
            "description": ""
        },
        {
            "id": "MONDO:0013734",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013734",
            "name": "microphthalmia, syndromic 11",
            "description": ""
        },
        {
            "id": "MONDO:0013734",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013734",
            "name": "microphthalmia, syndromic type 11",
            "description": ""
        },
        {
            "id": "MONDO:0013734",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013734",
            "name": "syndromic microphthalmia caused by mutation in VAX1",
            "description": ""
        },
        {
            "id": "MONDO:0013734",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013734",
            "name": "MCOPS11",
            "description": ""
        },
        {
            "id": "MIM:614402",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614402",
            "name": "Microphthalmia, syndromic, 11",
            "description": "Microphthalmia, syndromic, 11"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111804"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111804",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111804",
            "categories": []
        },
        {
            "id": "MONDO:0013734",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013734",
            "categories": []
        },
        {
            "id": "MIM:614402",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614402",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q801E0-1",
            "uniprot_ac": "Q801E0",
            "uniprot_id": "VAX1_DANRE",
            "refseq_ac": "NP_919391",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ventral anterior homeobox 1",
                    "type": "recommended"
                },
                {
                    "name": "ventral anterior homeobox 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "vax1",
                    "type": "recommended"
                },
                {
                    "name": "vax1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q801E0-1",
            "evidence": [
                {
                    "id": "0111804",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111804"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q2NKI2-1",
            "uniprot_ac": "Q2NKI2",
            "uniprot_id": "VAX1_MOUSE",
            "refseq_ac": "NP_033527",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ventral anterior homeobox 1",
                    "type": "recommended"
                },
                {
                    "name": "ventral anterior homeobox 1",
                    "type": "synonym"
                },
                {
                    "name": "ventral anterior homeobox containing gene 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Vax1",
                    "type": "recommended"
                },
                {
                    "name": "Vax1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q2NKI2-1",
            "evidence": [
                {
                    "id": "0111804",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111804"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5SQQ9-1",
            "uniprot_ac": "Q5SQQ9",
            "uniprot_id": "VAX1_HUMAN",
            "refseq_ac": "NP_001106175",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ventral anterior homeobox 1",
                    "type": "recommended"
                },
                {
                    "name": "ventral anterior homeobox 1 isoform a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "VAX1",
                    "type": "recommended"
                },
                {
                    "name": "MCOPS11",
                    "type": "synonym"
                },
                {
                    "name": "VAX1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5SQQ9-1",
            "evidence": [
                {
                    "id": "614402",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614402"
                },
                {
                    "id": "0111804",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111804"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9JM00-1",
            "uniprot_ac": "Q9JM00",
            "uniprot_id": "VAX1_RAT",
            "refseq_ac": "NP_072158",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ventral anterior homeobox 1",
                    "type": "recommended"
                },
                {
                    "name": "ventral anterior homeobox 1",
                    "type": "synonym"
                },
                {
                    "name": "ventral anterior homeobox containing gene 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Vax1",
                    "type": "recommended"
                },
                {
                    "name": "Vax1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9JM00-1",
            "evidence": [
                {
                    "id": "0111804",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111804"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111804"
}