{
    "disease_id": "DOID:0081015",
    "recommended_name": {
        "id": "DOID:0081015",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081015",
        "name": "congenital fibrosis of the extraocular muscles 1",
        "description": "A congenital fibrosis of the extraocular muscles that is characterized by bilateral blepharoptosis and ophthalmoplegia with the eyes fixed in an infraducted position about 20 to 30 degrees below the horizontal midline and that has_material_basis_in heterozygous mutation in the KIF21A gene on chromosome 12q12."
    },
    "synonyms": [
        {
            "id": "MONDO:0021083",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021083",
            "name": "congenital fibrosis of extraocular muscles type 1",
            "description": "Any congenital fibrosis of extraocular muscles in which the cause of the disease is a mutation in the KIF21A gene."
        },
        {
            "id": "MONDO:0021083",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021083",
            "name": "CFEOM1",
            "description": ""
        },
        {
            "id": "MONDO:0021083",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021083",
            "name": "KIF21A congenital fibrosis of extraocular muscles",
            "description": ""
        },
        {
            "id": "MONDO:0021083",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021083",
            "name": "congenital fibrosis of extraocular muscles caused by mutation in KIF21A",
            "description": ""
        },
        {
            "id": "MONDO:0021083",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021083",
            "name": "fibrosis of extraocular muscles, congenital, 1",
            "description": ""
        },
        {
            "id": "MIM:135700",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/135700",
            "name": "Fibrosis of extraocular muscles, congenital, 1",
            "description": "Fibrosis of extraocular muscles, congenital, 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081015"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081015",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081015",
            "categories": []
        },
        {
            "id": "MONDO:0021083",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021083",
            "categories": []
        },
        {
            "id": "MIM:135700",
            "database": "MIM",
            "url": "https://www.omim.org/entry/135700",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F8W409-1",
            "uniprot_ac": "F8W409",
            "uniprot_id": "F8W409_DANRE",
            "refseq_ac": "XP_009296478",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Kinesin-like protein KIF21A isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "kinesin-like protein KIF21A isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "kif21a",
                    "type": "recommended"
                },
                {
                    "name": "kif21a",
                    "type": "synonym"
                }
            ],
            "record_id": "F8W409-1",
            "evidence": [
                {
                    "id": "0081015",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081015"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9QXL2-1",
            "uniprot_ac": "Q9QXL2",
            "uniprot_id": "KI21A_MOUSE",
            "refseq_ac": "NP_001102510",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Kinesin-like protein KIF21A",
                    "type": "recommended"
                },
                {
                    "name": "N-5 kinesin",
                    "type": "synonym"
                },
                {
                    "name": "kinesin-like protein KIF21A isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "kinesin-like protein KIF21A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kif21a",
                    "type": "recommended"
                },
                {
                    "name": "Kiaa1708",
                    "type": "synonym"
                },
                {
                    "name": "Kif21a",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9QXL2-1",
            "evidence": [
                {
                    "id": "0081015",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081015"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7Z4S6-1",
            "uniprot_ac": "Q7Z4S6",
            "uniprot_id": "KI21A_HUMAN",
            "refseq_ac": "NP_001166934",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Kinesin-like protein KIF21A",
                    "type": "recommended"
                },
                {
                    "name": "Kinesin-like protein KIF2",
                    "type": "synonym"
                },
                {
                    "name": "Renal carcinoma antigen NY-REN-62",
                    "type": "synonym"
                },
                {
                    "name": "kinesin-like protein KIF21A isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "kinesin-like protein KIF2",
                    "type": "synonym"
                },
                {
                    "name": "renal carcinoma antigen NY-REN-62",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KIF21A",
                    "type": "recommended"
                },
                {
                    "name": "CFEOM1",
                    "type": "synonym"
                },
                {
                    "name": "FEOM1",
                    "type": "synonym"
                },
                {
                    "name": "FEOM3A",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1708",
                    "type": "synonym"
                },
                {
                    "name": "KIF21A",
                    "type": "synonym"
                },
                {
                    "name": "KIF2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7Z4S6-1",
            "evidence": [
                {
                    "id": "135700",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/135700"
                },
                {
                    "id": "0081015",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081015"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZCG2-1",
            "uniprot_ac": "D3ZCG2",
            "uniprot_id": "D3ZCG2_RAT",
            "refseq_ac": "NP_001358467",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Kinesin-like protein KIF21A",
                    "type": "recommended"
                },
                {
                    "name": "kinesin-like protein KIF21A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kif21a",
                    "type": "recommended"
                },
                {
                    "name": "Kif21a",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZCG2-1",
            "evidence": [
                {
                    "id": "0081015",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081015"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VKW4-1",
            "uniprot_ac": "Q9VKW4",
            "uniprot_id": "Q9VKW4_DROME",
            "refseq_ac": "NP_001162935",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG5300-PB",
                    "type": "synonym"
                },
                {
                    "name": "Kinesin-like protein at 31E, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "Kinesin-like protein at 31E, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "Kinesin-like protein at 31E, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "Kinesin3D",
                    "type": "synonym"
                },
                {
                    "name": "Klp31E-PB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Klp31E",
                    "type": "recommended"
                },
                {
                    "name": "B",
                    "type": "synonym"
                },
                {
                    "name": "CG5300",
                    "type": "synonym"
                },
                {
                    "name": "DmCG5300",
                    "type": "synonym"
                },
                {
                    "name": "DmKlp31D",
                    "type": "synonym"
                },
                {
                    "name": "DmKlp31E",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5300",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG5300",
                    "type": "synonym"
                },
                {
                    "name": "KIF 21A",
                    "type": "synonym"
                },
                {
                    "name": "KIF21A/B",
                    "type": "synonym"
                },
                {
                    "name": "KLP31E",
                    "type": "synonym"
                },
                {
                    "name": "Klp31E",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VKW4-1",
            "evidence": [
                {
                    "id": "0081015",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081015"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081015"
}