{
    "disease_id": "DOID:0081020",
    "recommended_name": {
        "id": "DOID:0081020",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081020",
        "name": "congenital fibrosis of the extraocular muscles 5",
        "description": "A congenital fibrosis of the extraocular muscles that has_material_basis_in homozygous or compound heterozygous mutation in the COL25A1 gene on chromosome 4q25."
    },
    "synonyms": [
        {
            "id": "MONDO:0014538",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014538",
            "name": "fibrosis of extraocular muscles, congenital, 5",
            "description": "Any congenital fibrosis of extraocular muscles in which the cause of the disease is a mutation in the COL25A1 gene."
        },
        {
            "id": "MONDO:0014538",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014538",
            "name": "COL25A1 congenital fibrosis of extraocular muscles",
            "description": ""
        },
        {
            "id": "MONDO:0014538",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014538",
            "name": "congenital fibrosis of extraocular muscles caused by mutation in COL25A1",
            "description": ""
        },
        {
            "id": "MONDO:0014538",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014538",
            "name": "fibrosis of extraocular muscles, congenital, 5",
            "description": ""
        },
        {
            "id": "MONDO:0014538",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014538",
            "name": "fibrosis of extraocular muscles, congenital, type 5",
            "description": ""
        },
        {
            "id": "MONDO:0014538",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014538",
            "name": "CFEOM5",
            "description": ""
        },
        {
            "id": "MIM:616219",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616219",
            "name": "Fibrosis of extraocular muscles, congenital, 5",
            "description": "Fibrosis of extraocular muscles, congenital, 5"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081020"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081020",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081020",
            "categories": []
        },
        {
            "id": "MONDO:0014538",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014538",
            "categories": []
        },
        {
            "id": "MIM:616219",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616219",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q99MQ5-1",
            "uniprot_ac": "Q99MQ5",
            "uniprot_id": "COPA1_MOUSE",
            "refseq_ac": "NP_084114",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Collagen alpha-1(XXV) chain",
                    "type": "recommended"
                },
                {
                    "name": "CLAC-P",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-1(XXV) chain isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-1(XXV) chain",
                    "type": "synonym"
                },
                {
                    "name": "collagen-like Alzheimer amyloid plaque component",
                    "type": "synonym"
                },
                {
                    "name": "procollagen, type XXV, alpha 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Col25a1",
                    "type": "recommended"
                },
                {
                    "name": "2700062B08Rik",
                    "type": "synonym"
                },
                {
                    "name": "CLAC-P",
                    "type": "synonym"
                },
                {
                    "name": "Col25a1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q99MQ5-1",
            "evidence": [
                {
                    "id": "0081020",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081020"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9BXS0-1",
            "uniprot_ac": "Q9BXS0",
            "uniprot_id": "COPA1_HUMAN",
            "refseq_ac": "NP_115907",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Collagen alpha-1(XXV) chain",
                    "type": "recommended"
                },
                {
                    "name": "AMY",
                    "type": "synonym"
                },
                {
                    "name": "Alzheimer disease amyloid-associated protein",
                    "type": "synonym"
                },
                {
                    "name": "CLAC-P",
                    "type": "synonym"
                },
                {
                    "name": "alzheimer disease amyloid-associated protein",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-1(XXV) chain isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-1(XXV) chain",
                    "type": "synonym"
                },
                {
                    "name": "collagen-like Alzheimer amyloid plaque component",
                    "type": "synonym"
                },
                {
                    "name": "collagenous Alzheimer amyloid plaque component",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "COL25A1",
                    "type": "recommended"
                },
                {
                    "name": "AMY",
                    "type": "synonym"
                },
                {
                    "name": "CFEOM5",
                    "type": "synonym"
                },
                {
                    "name": "CLAC-P",
                    "type": "synonym"
                },
                {
                    "name": "CLACP",
                    "type": "synonym"
                },
                {
                    "name": "CLAC",
                    "type": "synonym"
                },
                {
                    "name": "COL25A1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9BXS0-1",
            "evidence": [
                {
                    "id": "616219",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616219"
                },
                {
                    "id": "0081020",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081020"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "M0R513-1",
            "uniprot_ac": "M0R513",
            "uniprot_id": "M0R513_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Collagen type XXV alpha 1 chain",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Col25a1",
                    "type": "recommended"
                },
                {
                    "name": "LOC687064",
                    "type": "synonym"
                }
            ],
            "record_id": "M0R513-1",
            "evidence": [
                {
                    "id": "0081020",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081020"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081020"
}