{
    "disease_id": "DOID:0080143",
    "recommended_name": {
        "id": "DOID:0080143",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080143",
        "name": "congenital fibrosis of the extraocular muscles",
        "description": "An ocular motility disease that is characterized by the inability to move the eyes in certain directions, droopy eyelids and eyes that are fixed in an abnormal position."
    },
    "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": "DOID:0081015",
            "label": "congenital fibrosis of the extraocular muscles 1",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0081016",
            "label": "congenital fibrosis of the extraocular muscles 2",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0081017",
            "label": "congenital fibrosis of the extraocular muscles 3A",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0081020",
            "label": "congenital fibrosis of the extraocular muscles 5",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0081020",
        "DOID:0081016",
        "DOID:0081017",
        "DOID:0080143",
        "DOID:0081015"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080143",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080143",
            "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": "0080143",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080143"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9ERD7-1",
            "uniprot_ac": "Q9ERD7",
            "uniprot_id": "TBB3_MOUSE",
            "refseq_ac": "NP_075768",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tubulin beta-3 chain",
                    "type": "recommended"
                },
                {
                    "name": "betaIII-tubulin",
                    "type": "synonym"
                },
                {
                    "name": "tubulin beta-3 chain",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tubb3",
                    "type": "recommended"
                },
                {
                    "name": "3200002H15Rik",
                    "type": "synonym"
                },
                {
                    "name": "M(beta)3",
                    "type": "synonym"
                },
                {
                    "name": "M(beta)6",
                    "type": "synonym"
                },
                {
                    "name": "Tubb3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9ERD7-1",
            "evidence": [
                {
                    "id": "0080143",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080143"
                }
            ]
        },
        {
            "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": "0080143",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080143"
                }
            ]
        },
        {
            "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": "0080143",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080143"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P02557-1",
            "uniprot_ac": "P02557",
            "uniprot_id": "TBB_YEAST",
            "refseq_ac": "NP_116616",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tubulin beta chain",
                    "type": "recommended"
                },
                {
                    "name": "Beta-tubulin",
                    "type": "synonym"
                },
                {
                    "name": "beta-tubulin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TUB2",
                    "type": "recommended"
                },
                {
                    "name": "ARM10",
                    "type": "synonym"
                },
                {
                    "name": "SHE8",
                    "type": "synonym"
                },
                {
                    "name": "TUB2",
                    "type": "synonym"
                }
            ],
            "record_id": "P02557-1",
            "evidence": [
                {
                    "id": "0080143",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080143"
                }
            ]
        },
        {
            "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": "0080143",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080143"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q4QRB4-1",
            "uniprot_ac": "Q4QRB4",
            "uniprot_id": "TBB3_RAT",
            "refseq_ac": "NP_640347",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tubulin beta-3 chain",
                    "type": "recommended"
                },
                {
                    "name": "Neuron-specific class III beta-tubulin",
                    "type": "synonym"
                },
                {
                    "name": "neuron-specific class III beta-tubulin",
                    "type": "synonym"
                },
                {
                    "name": "tubulin beta-3 chain",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tubb3",
                    "type": "recommended"
                },
                {
                    "name": "Tubb3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q4QRB4-1",
            "evidence": [
                {
                    "id": "0080143",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080143"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P08841-1",
            "uniprot_ac": "P08841",
            "uniprot_id": "TBB3_DROME",
            "refseq_ac": "NP_523842",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tubulin beta-3 chain",
                    "type": "recommended"
                },
                {
                    "name": "60C beta tubulin",
                    "type": "synonym"
                },
                {
                    "name": "B3-tubulin",
                    "type": "synonym"
                },
                {
                    "name": "Beta-3-tubulin",
                    "type": "synonym"
                },
                {
                    "name": "CG3401-PA",
                    "type": "synonym"
                },
                {
                    "name": "Pin",
                    "type": "synonym"
                },
                {
                    "name": "b-3 tubulin",
                    "type": "synonym"
                },
                {
                    "name": "b3 tubulin",
                    "type": "synonym"
                },
                {
                    "name": "beta 3 tubulin",
                    "type": "synonym"
                },
                {
                    "name": "beta tubulin",
                    "type": "synonym"
                },
                {
                    "name": "beta-3 tubulin",
                    "type": "synonym"
                },
                {
                    "name": "beta-3-tubulin",
                    "type": "synonym"
                },
                {
                    "name": "beta-3tubulin",
                    "type": "synonym"
                },
                {
                    "name": "beta-Tubulin at 60A",
                    "type": "synonym"
                },
                {
                    "name": "beta-Tubulin at 60D, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "beta-tubulin 60D",
                    "type": "synonym"
                },
                {
                    "name": "beta-tubulin at 60D",
                    "type": "synonym"
                },
                {
                    "name": "beta-tubulin60D",
                    "type": "synonym"
                },
                {
                    "name": "beta3 tubulin",
                    "type": "synonym"
                },
                {
                    "name": "beta3-tubulin",
                    "type": "synonym"
                },
                {
                    "name": "beta3tubulin",
                    "type": "synonym"
                },
                {
                    "name": "betaTub60D-PA",
                    "type": "synonym"
                },
                {
                    "name": "betatubulin",
                    "type": "synonym"
                },
                {
                    "name": "tack",
                    "type": "synonym"
                },
                {
                    "name": "tubulin b-3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "betaTub60D",
                    "type": "recommended"
                },
                {
                    "name": "143391_i_at",
                    "type": "synonym"
                },
                {
                    "name": "3t",
                    "type": "synonym"
                },
                {
                    "name": "B3t",
                    "type": "synonym"
                },
                {
                    "name": "BETA 60D",
                    "type": "synonym"
                },
                {
                    "name": "CG3401",
                    "type": "synonym"
                },
                {
                    "name": "D.m.BETA-60D",
                    "type": "synonym"
                },
                {
                    "name": "DTB3",
                    "type": "synonym"
                },
                {
                    "name": "Dmbeta3",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3401",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG3401",
                    "type": "synonym"
                },
                {
                    "name": "Pin",
                    "type": "synonym"
                },
                {
                    "name": "Tac",
                    "type": "synonym"
                },
                {
                    "name": "Tub2E",
                    "type": "synonym"
                },
                {
                    "name": "Tub60D",
                    "type": "synonym"
                },
                {
                    "name": "TubB60C",
                    "type": "synonym"
                },
                {
                    "name": "Tub",
                    "type": "synonym"
                },
                {
                    "name": "T",
                    "type": "synonym"
                },
                {
                    "name": "beta-Tub60D",
                    "type": "synonym"
                },
                {
                    "name": "beta-Tub6D",
                    "type": "synonym"
                },
                {
                    "name": "beta-tub",
                    "type": "synonym"
                },
                {
                    "name": "beta3 TU",
                    "type": "synonym"
                },
                {
                    "name": "beta3-Tub",
                    "type": "synonym"
                },
                {
                    "name": "beta3-tubulin",
                    "type": "synonym"
                },
                {
                    "name": "beta3TUB",
                    "type": "synonym"
                },
                {
                    "name": "beta3Tub60D",
                    "type": "synonym"
                },
                {
                    "name": "beta3Tub",
                    "type": "synonym"
                },
                {
                    "name": "beta3tub",
                    "type": "synonym"
                },
                {
                    "name": "beta3t",
                    "type": "synonym"
                },
                {
                    "name": "beta3",
                    "type": "synonym"
                },
                {
                    "name": "beta60C",
                    "type": "synonym"
                },
                {
                    "name": "betaTub3",
                    "type": "synonym"
                },
                {
                    "name": "betaTub60C",
                    "type": "synonym"
                },
                {
                    "name": "betaTub60D",
                    "type": "synonym"
                },
                {
                    "name": "betaTub",
                    "type": "synonym"
                },
                {
                    "name": "beta[[3]] tubulin",
                    "type": "synonym"
                },
                {
                    "name": "beta[[3]]-Tub",
                    "type": "synonym"
                },
                {
                    "name": "beta[[3]]-tubulin",
                    "type": "synonym"
                },
                {
                    "name": "betatub60D",
                    "type": "synonym"
                },
                {
                    "name": "betatubulin",
                    "type": "synonym"
                },
                {
                    "name": "p50/tubulin",
                    "type": "synonym"
                },
                {
                    "name": "p50",
                    "type": "synonym"
                },
                {
                    "name": "p53/tubulin",
                    "type": "synonym"
                },
                {
                    "name": "p53",
                    "type": "synonym"
                },
                {
                    "name": "tubulin",
                    "type": "synonym"
                }
            ],
            "record_id": "P08841-1",
            "evidence": [
                {
                    "id": "0080143",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080143"
                }
            ]
        },
        {
            "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": "0080143",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080143"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q13509-1",
            "uniprot_ac": "Q13509",
            "uniprot_id": "TBB3_HUMAN",
            "refseq_ac": "NP_001184110",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tubulin beta-3 chain",
                    "type": "recommended"
                },
                {
                    "name": "Tubulin beta-4 chain",
                    "type": "synonym"
                },
                {
                    "name": "Tubulin beta-III",
                    "type": "synonym"
                },
                {
                    "name": "class III beta-tubulin",
                    "type": "synonym"
                },
                {
                    "name": "tubulin beta-3 chain isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "tubulin beta-4 chain",
                    "type": "synonym"
                },
                {
                    "name": "tubulin beta-III",
                    "type": "synonym"
                },
                {
                    "name": "tubulin, beta 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TUBB3",
                    "type": "recommended"
                },
                {
                    "name": "CDCBM1",
                    "type": "synonym"
                },
                {
                    "name": "CDCBM",
                    "type": "synonym"
                },
                {
                    "name": "CFEOM3A",
                    "type": "synonym"
                },
                {
                    "name": "CFEOM3",
                    "type": "synonym"
                },
                {
                    "name": "FEOM3",
                    "type": "synonym"
                },
                {
                    "name": "TUBB3",
                    "type": "synonym"
                },
                {
                    "name": "TUBB4",
                    "type": "synonym"
                },
                {
                    "name": "beta-4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q13509-1",
            "evidence": [
                {
                    "id": "0080143",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080143"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080143"
}