{
    "disease_id": "DOID:0081016",
    "recommended_name": {
        "id": "DOID:0081016",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081016",
        "name": "congenital fibrosis of the extraocular muscles 2",
        "description": "A congenital fibrosis of the extraocular muscles that is characterized by bilateral ptosis and restrictive ophthalmoplegia with the globes fixed in extreme abduction (exotropia) and that has_material_basis_in homozygous mutation in the ARIX gene on chromosome 11q13."
    },
    "synonyms": [
        {
            "id": "MONDO:0011181",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011181",
            "name": "fibrosis of extraocular muscles, congenital, 2",
            "description": "Any congenital fibrosis of extraocular muscles in which the cause of the disease is a mutation in the PHOX2A gene."
        },
        {
            "id": "MONDO:0011181",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011181",
            "name": "PHOX2A congenital fibrosis of extraocular muscles",
            "description": ""
        },
        {
            "id": "MONDO:0011181",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011181",
            "name": "congenital fibrosis of extraocular muscles caused by mutation in PHOX2A",
            "description": ""
        },
        {
            "id": "MONDO:0011181",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011181",
            "name": "fibrosis of extraocular muscles, congenital, 2",
            "description": ""
        },
        {
            "id": "MONDO:0011181",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011181",
            "name": "fibrosis of extraocular muscles, congenital, type 2",
            "description": ""
        },
        {
            "id": "MONDO:0011181",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011181",
            "name": "CFEOM2",
            "description": ""
        },
        {
            "id": "MIM:602078",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/602078",
            "name": "Fibrosis of extraocular muscles, congenital, 2",
            "description": "Fibrosis of extraocular muscles, congenital, 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081016"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081016",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081016",
            "categories": []
        },
        {
            "id": "MONDO:0011181",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011181",
            "categories": []
        },
        {
            "id": "MIM:602078",
            "database": "MIM",
            "url": "https://www.omim.org/entry/602078",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1RCT9-1",
            "uniprot_ac": "F1RCT9",
            "uniprot_id": "F1RCT9_DANRE",
            "refseq_ac": "NP_996953",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Paired mesoderm homeobox protein 2A",
                    "type": "synonym"
                },
                {
                    "name": "aristaless homeobox",
                    "type": "synonym"
                },
                {
                    "name": "paired mesoderm homeobox protein 2A",
                    "type": "synonym"
                },
                {
                    "name": "soulless",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "phox2a",
                    "type": "recommended"
                },
                {
                    "name": "arix",
                    "type": "synonym"
                },
                {
                    "name": "phox2a",
                    "type": "synonym"
                },
                {
                    "name": "sou",
                    "type": "synonym"
                },
                {
                    "name": "zgc:77364",
                    "type": "synonym"
                }
            ],
            "record_id": "F1RCT9-1",
            "evidence": [
                {
                    "id": "0081016",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081016"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q62066-1",
            "uniprot_ac": "Q62066",
            "uniprot_id": "PHX2A_MOUSE",
            "refseq_ac": "NP_032913",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Paired mesoderm homeobox protein 2A",
                    "type": "recommended"
                },
                {
                    "name": "Aristaless homeobox protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "PHOX2A homeodomain protein",
                    "type": "synonym"
                },
                {
                    "name": "Paired-like homeobox 2A",
                    "type": "synonym"
                },
                {
                    "name": "aristaless homeobox gene homolog",
                    "type": "synonym"
                },
                {
                    "name": "aristaless homeobox protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "paired mesoderm homeobox 2a",
                    "type": "synonym"
                },
                {
                    "name": "paired mesoderm homeobox protein 2A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Phox2a",
                    "type": "recommended"
                },
                {
                    "name": "Arix",
                    "type": "synonym"
                },
                {
                    "name": "Phox2a",
                    "type": "synonym"
                },
                {
                    "name": "Phox2",
                    "type": "synonym"
                },
                {
                    "name": "Pmx2a",
                    "type": "synonym"
                },
                {
                    "name": "Pmx2",
                    "type": "synonym"
                },
                {
                    "name": "Px2a",
                    "type": "synonym"
                }
            ],
            "record_id": "Q62066-1",
            "evidence": [
                {
                    "id": "0081016",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081016"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O14813-1",
            "uniprot_ac": "O14813",
            "uniprot_id": "PHX2A_HUMAN",
            "refseq_ac": "NP_005160",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Paired mesoderm homeobox protein 2A",
                    "type": "recommended"
                },
                {
                    "name": "ARIX1 homeodomain protein",
                    "type": "synonym"
                },
                {
                    "name": "Aristaless homeobox protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "Paired-like homeobox 2A",
                    "type": "synonym"
                },
                {
                    "name": "aristaless homeobox homolog",
                    "type": "synonym"
                },
                {
                    "name": "aristaless homeobox protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "arix homeodomain protein",
                    "type": "synonym"
                },
                {
                    "name": "paired mesoderm homeobox protein 2A isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "paired mesoderm homeobox protein 2A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PHOX2A",
                    "type": "recommended"
                },
                {
                    "name": "ARIX",
                    "type": "synonym"
                },
                {
                    "name": "CFEOM2",
                    "type": "synonym"
                },
                {
                    "name": "FEOM2",
                    "type": "synonym"
                },
                {
                    "name": "PHOX2A",
                    "type": "synonym"
                },
                {
                    "name": "PMX2A",
                    "type": "synonym"
                }
            ],
            "record_id": "O14813-1",
            "evidence": [
                {
                    "id": "602078",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/602078"
                },
                {
                    "id": "0081016",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081016"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q62782-1",
            "uniprot_ac": "Q62782",
            "uniprot_id": "PHX2A_RAT",
            "refseq_ac": "NP_446321",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Paired mesoderm homeobox protein 2A",
                    "type": "recommended"
                },
                {
                    "name": "ARIX1 homeodomain protein",
                    "type": "synonym"
                },
                {
                    "name": "Aristaless homeobox protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "Paired-like homeobox 2A",
                    "type": "synonym"
                },
                {
                    "name": "aristaless homeobox protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "paired mesoderm homeobox protein 2A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Phox2a",
                    "type": "recommended"
                },
                {
                    "name": "Arix",
                    "type": "synonym"
                },
                {
                    "name": "Phox2a",
                    "type": "synonym"
                },
                {
                    "name": "Pmx2a",
                    "type": "synonym"
                }
            ],
            "record_id": "Q62782-1",
            "evidence": [
                {
                    "id": "0081016",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081016"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W1H7-1",
            "uniprot_ac": "Q9W1H7",
            "uniprot_id": "Q9W1H7_DROME",
            "refseq_ac": "NP_523834",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG11182-PA",
                    "type": "synonym"
                },
                {
                    "name": "Homeodomain protein",
                    "type": "synonym"
                },
                {
                    "name": "PHDP-PA",
                    "type": "synonym"
                },
                {
                    "name": "putative homeodomain protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PHDP",
                    "type": "recommended"
                },
                {
                    "name": "CG11182",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG11182",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG11182",
                    "type": "synonym"
                },
                {
                    "name": "PHDP",
                    "type": "synonym"
                },
                {
                    "name": "anon-60Ac",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W1H7-1",
            "evidence": [
                {
                    "id": "0081016",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081016"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081016"
}