{
    "disease_id": "DOID:0080000",
    "recommended_name": {
        "id": "DOID:0080000",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080000",
        "name": "muscular disease",
        "description": "A musculoskeletal system disease that affects the muscles."
    },
    "synonyms": [],
    "children": [
        {
            "id": "DOID:0050710",
            "label": "3-methylcrotonyl-CoA carboxylase deficiency",
            "link_status": true,
            "children": [
                {
                    "id": "DOID:0080579",
                    "label": "3-methylcrotonyl-CoA carboxylase 1 deficiency",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0080580",
                    "label": "3-methylcrotonyl-CoA carboxylase 2 deficiency",
                    "link_status": true,
                    "children": []
                }
            ]
        },
        {
            "id": "DOID:0050824",
            "label": "sinoatrial node disease",
            "link_status": true,
            "children": [
                {
                    "id": "DOID:13884",
                    "label": "sick sinus syndrome",
                    "link_status": true,
                    "children": []
                }
            ]
        },
        {
            "id": "DOID:0061183",
            "label": "myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 1",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0061184",
            "label": "myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 2",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:10481",
            "label": "diaphragm disease",
            "link_status": false,
            "children": [
                {
                    "id": "DOID:3827",
                    "label": "congenital diaphragmatic hernia",
                    "link_status": true,
                    "children": []
                }
            ]
        },
        {
            "id": "DOID:4045",
            "label": "muscle cancer",
            "link_status": false,
            "children": [
                {
                    "id": "DOID:4043",
                    "label": "skeletal muscle cancer",
                    "link_status": false,
                    "children": [
                        {
                            "id": "DOID:3247",
                            "label": "rhabdomyosarcoma",
                            "link_status": true,
                            "children": [
                                {
                                    "id": "DOID:3246",
                                    "label": "embryonal rhabdomyosarcoma",
                                    "link_status": true,
                                    "children": []
                                },
                                {
                                    "id": "DOID:4051",
                                    "label": "alveolar rhabdomyosarcoma",
                                    "link_status": true,
                                    "children": []
                                }
                            ]
                        },
                        {
                            "id": "DOID:4239",
                            "label": "alveolar soft part sarcoma",
                            "link_status": true,
                            "children": []
                        }
                    ]
                },
                {
                    "id": "DOID:4230",
                    "label": "smooth muscle cancer",
                    "link_status": false,
                    "children": [
                        {
                            "id": "DOID:1967",
                            "label": "leiomyosarcoma",
                            "link_status": true,
                            "children": []
                        }
                    ]
                }
            ]
        },
        {
            "id": "DOID:66",
            "label": "muscle tissue disease",
            "link_status": true,
            "children": [
                {
                    "id": "DOID:0050646",
                    "label": "distal arthrogryposis",
                    "link_status": true,
                    "children": [
                        {
                            "id": "DOID:0111594",
                            "label": "distal arthrogryposis type 5D",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0111595",
                            "label": "congenital contractural arachnodactyly",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0111596",
                            "label": "distal arthrogryposis type 1",
                            "link_status": true,
                            "children": [
                                {
                                    "id": "DOID:0111597",
                                    "label": "distal arthrogryposis type 1A",
                                    "link_status": true,
                                    "children": []
                                },
                                {
                                    "id": "DOID:0111598",
                                    "label": "distal arthrogryposis type 1B",
                                    "link_status": true,
                                    "children": []
                                },
                                {
                                    "id": "DOID:0112190",
                                    "label": "distal arthrogryposis type 1C",
                                    "link_status": true,
                                    "children": []
                                }
                            ]
                        },
                        {
                            "id": "DOID:0111599",
                            "label": "distal arthrogryposis type 2B",
                            "link_status": true,
                            "children": [
                                {
                                    "id": "DOID:0111600",
                                    "label": "distal arthrogryposis type 2B1",
                                    "link_status": true,
                                    "children": []
                                },
                                {
                                    "id": "DOID:0111601",
                                    "label": "distal arthrogryposis type 2B2",
                                    "link_status": true,
                                    "children": []
                                },
                                {
                                    "id": "DOID:0111602",
                                    "label": "distal arthrogryposis type 2B3",
                                    "link_status": true,
                                    "children": []
                                }
                            ]
                        },
                        {
                            "id": "DOID:0111603",
                            "label": "distal arthrogryposis type 7",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0111604",
                            "label": "Freeman-Sheldon syndrome",
                            "link_status": false,
                            "children": [
                                {
                                    "id": "DOID:0111605",
                                    "label": "distal arthrogryposis type 2A",
                                    "link_status": true,
                                    "children": []
                                }
                            ]
                        },
                        {
                            "id": "DOID:0111607",
                            "label": "distal arthrogryposis type 3",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0111608",
                            "label": "distal arthrogryposis type 5",
                            "link_status": true,
                            "children": []
                        }
                    ]
                },
                {
                    "id": "DOID:0060255",
                    "label": "rippling muscle disease 2",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0111072",
                    "label": "myostatin-related muscle hypertrophy",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:2106",
                    "label": "myotonia congenita",
                    "link_status": true,
                    "children": [
                        {
                            "id": "DOID:0081335",
                            "label": "Becker disease",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0081336",
                            "label": "Thomsen disease",
                            "link_status": true,
                            "children": []
                        }
                    ]
                },
                {
                    "id": "DOID:423",
                    "label": "myopathy",
                    "link_status": true,
                    "children": [
                        {
                            "id": "DOID:0050760",
                            "label": "X-linked myopathy with excessive autophagy",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0080089",
                            "label": "tubular aggregate myopathy 1",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0080090",
                            "label": "reducing body myopathy 1A",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0080108",
                            "label": "myoglobinuria",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0080307",
                            "label": "myofibrillar myopathy",
                            "link_status": true,
                            "children": [
                                {
                                    "id": "DOID:0051044",
                                    "label": "infantile-onset myofibrillar myopathy 12 with cardiomyopathy",
                                    "link_status": true,
                                    "children": []
                                },
                                {
                                    "id": "DOID:0051045",
                                    "label": "myofibrillar myopathy 13 with rimmed vacuoles",
                                    "link_status": true,
                                    "children": []
                                },
                                {
                                    "id": "DOID:0080092",
                                    "label": "myofibrillar myopathy 1",
                                    "link_status": true,
                                    "children": []
                                },
                                {
                                    "id": "DOID:0080093",
                                    "label": "adult-onset myofibrillar myopathy 2A",
                                    "link_status": true,
                                    "children": []
                                },
                                {
                                    "id": "DOID:0080094",
                                    "label": "myofibrillar myopathy 3",
                                    "link_status": true,
                                    "children": []
                                },
                                {
                                    "id": "DOID:0080095",
                                    "label": "myofibrillar myopathy 4",
                                    "link_status": true,
                                    "children": []
                                },
                                {
                                    "id": "DOID:0080096",
                                    "label": "myofibrillar myopathy 5",
                                    "link_status": true,
                                    "children": []
                                },
                                {
                                    "id": "DOID:0080097",
                                    "label": "myofibrillar myopathy 6",
                                    "link_status": true,
                                    "children": []
                                },
                                {
                                    "id": "DOID:0080098",
                                    "label": "myofibrillar myopathy 7",
                                    "link_status": true,
                                    "children": []
                                },
                                {
                                    "id": "DOID:0080308",
                                    "label": "myofibrillar myopathy 8",
                                    "link_status": true,
                                    "children": []
                                },
                                {
                                    "id": "DOID:0080309",
                                    "label": "infantile-onset myofibrillar myopathy-2B",
                                    "link_status": true,
                                    "children": []
                                },
                                {
                                    "id": "DOID:0081338",
                                    "label": "myofibrillar myopathy 11",
                                    "link_status": true,
                                    "children": []
                                },
                                {
                                    "id": "DOID:0111188",
                                    "label": "myofibrillar myopathy 9",
                                    "link_status": true,
                                    "children": []
                                },
                                {
                                    "id": "DOID:0112108",
                                    "label": "myofibrillar myopathy 10",
                                    "link_status": true,
                                    "children": []
                                }
                            ]
                        },
                        {
                            "id": "DOID:0080686",
                            "label": "tubular aggregate myopathy 2",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0080687",
                            "label": "reducing body myopathy 1B",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0080718",
                            "label": "GNE myopathy",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0080990",
                            "label": "King Denborough syndrome",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0080992",
                            "label": "rhabdomyolysis-myalgia syndrome",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0081296",
                            "label": "oculopharyngodistal myopathy",
                            "link_status": true,
                            "children": [
                                {
                                    "id": "DOID:0081297",
                                    "label": "oculopharyngodistal myopathy 1",
                                    "link_status": true,
                                    "children": []
                                },
                                {
                                    "id": "DOID:0081298",
                                    "label": "oculopharyngodistal myopathy 2",
                                    "link_status": true,
                                    "children": []
                                },
                                {
                                    "id": "DOID:0081299",
                                    "label": "oculopharyngodistal myopathy 3",
                                    "link_status": true,
                                    "children": []
                                },
                                {
                                    "id": "DOID:0081300",
                                    "label": "oculopharyngodistal myopathy 4",
                                    "link_status": true,
                                    "children": []
                                }
                            ]
                        },
                        {
                            "id": "DOID:0081337",
                            "label": "congenital myopathy",
                            "link_status": true,
                            "children": [
                                {
                                    "id": "DOID:0060346",
                                    "label": "congenital myopathy 13",
                                    "link_status": true,
                                    "children": []
                                },
                                {
                                    "id": "DOID:0061256",
                                    "label": "congenital myopathy 25",
                                    "link_status": true,
                                    "children": []
                                },
                                {
                                    "id": "DOID:0061257",
                                    "label": "congenital myopathy 26",
                                    "link_status": true,
                                    "children": []
                                },
                                {
                                    "id": "DOID:0061258",
                                    "label": "congenital myopathy 27",
                                    "link_status": true,
                                    "children": []
                                },
                                {
                                    "id": "DOID:0061259",
                                    "label": "congenital myopathy 28",
                                    "link_status": true,
                                    "children": []
                                },
                                {
                                    "id": "DOID:0080101",
                                    "label": "Compton-North congenital myopathy",
                                    "link_status": true,
                                    "children": []
                                },
                                {
                                    "id": "DOID:0080102",
                                    "label": "congenital myopathy 4A",
                                    "link_status": true,
                                    "children": []
                                },
                                {
                                    "id": "DOID:0080719",
                                    "label": "congenital myopathy 6",
                                    "link_status": true,
                                    "children": []
                                },
                                {
                                    "id": "DOID:0080991",
                                    "label": "congenital myopathy 1B",
                                    "link_status": true,
                                    "children": []
                                },
                                {
                                    "id": "DOID:0081339",
                                    "label": "congenital myopathy 2B",
                                    "link_status": true,
                                    "children": []
                                },
                                {
                                    "id": "DOID:0081340",
                                    "label": "congenital myopathy 2C",
                                    "link_status": true,
                                    "children": []
                                },
                                {
                                    "id": "DOID:0081341",
                                    "label": "congenital myopathy 5",
                                    "link_status": true,
                                    "children": []
                                },
                                {
                                    "id": "DOID:0081342",
                                    "label": "congenital myopathy 8",
                                    "link_status": true,
                                    "children": []
                                },
                                {
                                    "id": "DOID:0081343",
                                    "label": "congenital myopathy 9A",
                                    "link_status": true,
                                    "children": []
                                },
                                {
                                    "id": "DOID:0081344",
                                    "label": "congenital myopathy 9B",
                                    "link_status": true,
                                    "children": []
                                },
                                {
                                    "id": "DOID:0081345",
                                    "label": "congenital myopathy 10B",
                                    "link_status": true,
                                    "children": []
                                },
                                {
                                    "id": "DOID:0081346",
                                    "label": "congenital myopathy 14",
                                    "link_status": true,
                                    "children": []
                                },
                                {
                                    "id": "DOID:0081347",
                                    "label": "congenital myopathy 15",
                                    "link_status": true,
                                    "children": []
                                },
                                {
                                    "id": "DOID:0081348",
                                    "label": "congenital myopathy 16",
                                    "link_status": true,
                                    "children": []
                                },
                                {
                                    "id": "DOID:0081349",
                                    "label": "congenital myopathy 17",
                                    "link_status": true,
                                    "children": []
                                },
                                {
                                    "id": "DOID:0081350",
                                    "label": "congenital myopathy 18",
                                    "link_status": true,
                                    "children": []
                                },
                                {
                                    "id": "DOID:0081351",
                                    "label": "congenital myopathy 19",
                                    "link_status": true,
                                    "children": []
                                },
                                {
                                    "id": "DOID:0081352",
                                    "label": "congenital myopathy 20",
                                    "link_status": true,
                                    "children": []
                                },
                                {
                                    "id": "DOID:0081353",
                                    "label": "congenital myopathy 21",
                                    "link_status": true,
                                    "children": []
                                },
                                {
                                    "id": "DOID:0081354",
                                    "label": "congenital myopathy 22A",
                                    "link_status": true,
                                    "children": []
                                },
                                {
                                    "id": "DOID:0081355",
                                    "label": "congenital myopathy 22B",
                                    "link_status": true,
                                    "children": []
                                },
                                {
                                    "id": "DOID:0110926",
                                    "label": "congenital myopathy 4B",
                                    "link_status": true,
                                    "children": []
                                },
                                {
                                    "id": "DOID:0110932",
                                    "label": "congenital myopathy 23",
                                    "link_status": true,
                                    "children": []
                                },
                                {
                                    "id": "DOID:0111267",
                                    "label": "hyaline body myopathy",
                                    "link_status": false,
                                    "children": [
                                        {
                                            "id": "DOID:0111268",
                                            "label": "autosomal recessive hyaline body myopathy",
                                            "link_status": true,
                                            "children": []
                                        },
                                        {
                                            "id": "DOID:0111269",
                                            "label": "autosomal dominant hyaline body myopathy",
                                            "link_status": true,
                                            "children": []
                                        }
                                    ]
                                },
                                {
                                    "id": "DOID:0111333",
                                    "label": "congenital myopathy 10A",
                                    "link_status": true,
                                    "children": []
                                },
                                {
                                    "id": "DOID:3191",
                                    "label": "nemaline myopathy",
                                    "link_status": true,
                                    "children": [
                                        {
                                            "id": "DOID:0081374",
                                            "label": "nemaline myopathy 5B",
                                            "link_status": true,
                                            "children": []
                                        },
                                        {
                                            "id": "DOID:0081375",
                                            "label": "nemaline myopathy 5C",
                                            "link_status": true,
                                            "children": []
                                        },
                                        {
                                            "id": "DOID:0110927",
                                            "label": "nemaline myopathy 3",
                                            "link_status": true,
                                            "children": []
                                        },
                                        {
                                            "id": "DOID:0110928",
                                            "label": "nemaline myopathy 2",
                                            "link_status": true,
                                            "children": []
                                        },
                                        {
                                            "id": "DOID:0110929",
                                            "label": "nemaline myopathy 9",
                                            "link_status": true,
                                            "children": []
                                        },
                                        {
                                            "id": "DOID:0110930",
                                            "label": "nemaline myopathy 8",
                                            "link_status": true,
                                            "children": []
                                        },
                                        {
                                            "id": "DOID:0110931",
                                            "label": "nemaline myopathy 10",
                                            "link_status": true,
                                            "children": []
                                        },
                                        {
                                            "id": "DOID:0110933",
                                            "label": "nemaline myopathy 11",
                                            "link_status": true,
                                            "children": []
                                        },
                                        {
                                            "id": "DOID:0110934",
                                            "label": "nemaline myopathy 7",
                                            "link_status": true,
                                            "children": []
                                        },
                                        {
                                            "id": "DOID:0110935",
                                            "label": "nemaline myopathy 6",
                                            "link_status": true,
                                            "children": []
                                        },
                                        {
                                            "id": "DOID:0110936",
                                            "label": "nemaline myopathy 5A",
                                            "link_status": true,
                                            "children": []
                                        }
                                    ]
                                },
                                {
                                    "id": "DOID:3529",
                                    "label": "congenital myopathy 1A",
                                    "link_status": true,
                                    "children": []
                                },
                                {
                                    "id": "DOID:422",
                                    "label": "congenital structural myopathy",
                                    "link_status": true,
                                    "children": [
                                        {
                                            "id": "DOID:14717",
                                            "label": "centronuclear myopathy",
                                            "link_status": true,
                                            "children": [
                                                {
                                                    "id": "DOID:0111216",
                                                    "label": "autosomal recessive centronuclear myopathy",
                                                    "link_status": true,
                                                    "children": [
                                                        {
                                                            "id": "DOID:0111220",
                                                            "label": "centronuclear myopathy 2",
                                                            "link_status": true,
                                                            "children": []
                                                        },
                                                        {
                                                            "id": "DOID:0111221",
                                                            "label": "centronuclear myopathy 6 with fiber-type disproportion",
                                                            "link_status": true,
                                                            "children": []
                                                        },
                                                        {
                                                            "id": "DOID:0111222",
                                                            "label": "centronuclear myopathy 5",
                                                            "link_status": true,
                                                            "children": []
                                                        }
                                                    ]
                                                },
                                                {
                                                    "id": "DOID:0111217",
                                                    "label": "autosomal dominant centronuclear myopathy",
                                                    "link_status": false,
                                                    "children": [
                                                        {
                                                            "id": "DOID:0111223",
                                                            "label": "centronuclear myopathy 1",
                                                            "link_status": true,
                                                            "children": []
                                                        },
                                                        {
                                                            "id": "DOID:0111224",
                                                            "label": "centronuclear myopathy 4",
                                                            "link_status": true,
                                                            "children": []
                                                        }
                                                    ]
                                                },
                                                {
                                                    "id": "DOID:0111225",
                                                    "label": "centronuclear myopathy X-linked",
                                                    "link_status": true,
                                                    "children": []
                                                }
                                            ]
                                        }
                                    ]
                                }
                            ]
                        },
                        {
                            "id": "DOID:0111335",
                            "label": "myopathy with extrapyramidal signs",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0111551",
                            "label": "neurogenic scapuloperoneal syndrome Kaeser type",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:431",
                            "label": "myofascial pain syndrome",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:633",
                            "label": "myositis",
                            "link_status": true,
                            "children": [
                                {
                                    "id": "DOID:0080745",
                                    "label": "polymyositis",
                                    "link_status": true,
                                    "children": []
                                },
                                {
                                    "id": "DOID:10223",
                                    "label": "dermatomyositis",
                                    "link_status": true,
                                    "children": []
                                },
                                {
                                    "id": "DOID:3429",
                                    "label": "inclusion body myositis",
                                    "link_status": true,
                                    "children": []
                                },
                                {
                                    "id": "DOID:668",
                                    "label": "myositis ossificans",
                                    "link_status": true,
                                    "children": []
                                },
                                {
                                    "id": "DOID:971",
                                    "label": "tendinitis",
                                    "link_status": true,
                                    "children": []
                                }
                            ]
                        },
                        {
                            "id": "DOID:699",
                            "label": "mitochondrial myopathy",
                            "link_status": true,
                            "children": [
                                {
                                    "id": "DOID:0070750",
                                    "label": "mitochondrial myopathy and ataxia",
                                    "link_status": true,
                                    "children": []
                                },
                                {
                                    "id": "DOID:0080099",
                                    "label": "myopathy, lactic acidosis, and sideroblastic anemia",
                                    "link_status": true,
                                    "children": [
                                        {
                                            "id": "DOID:0111184",
                                            "label": "myopathy, lactic acidosis, and sideroblastic anemia 3",
                                            "link_status": true,
                                            "children": []
                                        },
                                        {
                                            "id": "DOID:0111185",
                                            "label": "myopathy, lactic acidosis, and sideroblastic anemia 1",
                                            "link_status": true,
                                            "children": []
                                        },
                                        {
                                            "id": "DOID:0111186",
                                            "label": "myopathy, lactic acidosis, and sideroblastic anemia 2",
                                            "link_status": true,
                                            "children": []
                                        }
                                    ]
                                },
                                {
                                    "id": "DOID:0081357",
                                    "label": "isolated mitochondrial myopathy",
                                    "link_status": true,
                                    "children": []
                                },
                                {
                                    "id": "DOID:12558",
                                    "label": "chronic progressive external ophthalmoplegia",
                                    "link_status": true,
                                    "children": [
                                        {
                                            "id": "DOID:0070759",
                                            "label": "autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 6",
                                            "link_status": true,
                                            "children": []
                                        },
                                        {
                                            "id": "DOID:0111515",
                                            "label": "autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 2",
                                            "link_status": true,
                                            "children": []
                                        },
                                        {
                                            "id": "DOID:0111516",
                                            "label": "autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4",
                                            "link_status": true,
                                            "children": []
                                        },
                                        {
                                            "id": "DOID:0111517",
                                            "label": "autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2",
                                            "link_status": true,
                                            "children": []
                                        },
                                        {
                                            "id": "DOID:0111518",
                                            "label": "autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5",
                                            "link_status": true,
                                            "children": []
                                        },
                                        {
                                            "id": "DOID:0111519",
                                            "label": "autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6",
                                            "link_status": true,
                                            "children": []
                                        },
                                        {
                                            "id": "DOID:0111520",
                                            "label": "autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3",
                                            "link_status": true,
                                            "children": []
                                        },
                                        {
                                            "id": "DOID:0111521",
                                            "label": "autosomal dominant progressive external ophthalmoplegia 1",
                                            "link_status": true,
                                            "children": []
                                        },
                                        {
                                            "id": "DOID:0111522",
                                            "label": "autosomal recessive progressive external ophthalmoplegia 1",
                                            "link_status": true,
                                            "children": []
                                        },
                                        {
                                            "id": "DOID:0111523",
                                            "label": "autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 3",
                                            "link_status": true,
                                            "children": []
                                        },
                                        {
                                            "id": "DOID:0111524",
                                            "label": "autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5",
                                            "link_status": true,
                                            "children": []
                                        },
                                        {
                                            "id": "DOID:0111525",
                                            "label": "autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4",
                                            "link_status": true,
                                            "children": []
                                        },
                                        {
                                            "id": "DOID:12934",
                                            "label": "Kearns-Sayre syndrome",
                                            "link_status": true,
                                            "children": []
                                        }
                                    ]
                                },
                                {
                                    "id": "DOID:890",
                                    "label": "mitochondrial encephalomyopathy",
                                    "link_status": true,
                                    "children": [
                                        {
                                            "id": "DOID:310",
                                            "label": "MERRF syndrome",
                                            "link_status": true,
                                            "children": []
                                        },
                                        {
                                            "id": "DOID:3687",
                                            "label": "MELAS syndrome",
                                            "link_status": true,
                                            "children": []
                                        }
                                    ]
                                }
                            ]
                        },
                        {
                            "id": "DOID:767",
                            "label": "muscular atrophy",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:9884",
                            "label": "muscular dystrophy",
                            "link_status": true,
                            "children": [
                                {
                                    "id": "DOID:0050557",
                                    "label": "congenital muscular dystrophy",
                                    "link_status": true,
                                    "children": [
                                        {
                                            "id": "DOID:0050558",
                                            "label": "Ullrich congenital muscular dystrophy",
                                            "link_status": true,
                                            "children": [
                                                {
                                                    "id": "DOID:0060942",
                                                    "label": "Ullrich congenital muscular dystrophy 1B",
                                                    "link_status": true,
                                                    "children": []
                                                },
                                                {
                                                    "id": "DOID:0060943",
                                                    "label": "Ullrich congenital muscular dystrophy 1C",
                                                    "link_status": true,
                                                    "children": []
                                                },
                                                {
                                                    "id": "DOID:0060946",
                                                    "label": "Ullrich congenital muscular dystrophy 1A",
                                                    "link_status": true,
                                                    "children": []
                                                },
                                                {
                                                    "id": "DOID:0060948",
                                                    "label": "Ullrich congenital muscular dystrophy 2",
                                                    "link_status": true,
                                                    "children": []
                                                }
                                            ]
                                        },
                                        {
                                            "id": "DOID:0050560",
                                            "label": "Walker-Warburg syndrome",
                                            "link_status": true,
                                            "children": []
                                        },
                                        {
                                            "id": "DOID:0050663",
                                            "label": "Bethlem myopathy",
                                            "link_status": true,
                                            "children": [
                                                {
                                                    "id": "DOID:0061198",
                                                    "label": "Bethlem myopathy 1A",
                                                    "link_status": true,
                                                    "children": []
                                                },
                                                {
                                                    "id": "DOID:0061199",
                                                    "label": "Bethlem myopathy 1B",
                                                    "link_status": true,
                                                    "children": []
                                                },
                                                {
                                                    "id": "DOID:0061200",
                                                    "label": "Bethlem myopathy 1C",
                                                    "link_status": true,
                                                    "children": []
                                                },
                                                {
                                                    "id": "DOID:0061201",
                                                    "label": "Bethlem myopathy 2",
                                                    "link_status": true,
                                                    "children": []
                                                }
                                            ]
                                        },
                                        {
                                            "id": "DOID:0061202",
                                            "label": "congenital muscular dystrophy with rapid progression",
                                            "link_status": true,
                                            "children": []
                                        },
                                        {
                                            "id": "DOID:0080197",
                                            "label": "congenital muscular dystrophy with cataracts and intellectual disability",
                                            "link_status": true,
                                            "children": []
                                        },
                                        {
                                            "id": "DOID:0110632",
                                            "label": "megaconial type congenital muscular dystrophy",
                                            "link_status": true,
                                            "children": []
                                        },
                                        {
                                            "id": "DOID:0110633",
                                            "label": "rigid spine muscular dystrophy 1",
                                            "link_status": true,
                                            "children": []
                                        },
                                        {
                                            "id": "DOID:0110636",
                                            "label": "congenital merosin-deficient muscular dystrophy 1A",
                                            "link_status": true,
                                            "children": []
                                        },
                                        {
                                            "id": "DOID:0110639",
                                            "label": "congenital muscular dystrophy due to integrin alpha-7 deficiency",
                                            "link_status": true,
                                            "children": []
                                        },
                                        {
                                            "id": "DOID:0110640",
                                            "label": "congenital muscular dystrophy due to LMNA mutation",
                                            "link_status": true,
                                            "children": []
                                        },
                                        {
                                            "id": "DOID:0112374",
                                            "label": "muscular dystrophy-dystroglycanopathy",
                                            "link_status": true,
                                            "children": [
                                                {
                                                    "id": "DOID:0111229",
                                                    "label": "congenital muscular dystrophy-dystroglycanopathy type A",
                                                    "link_status": true,
                                                    "children": [
                                                        {
                                                            "id": "DOID:0050559",
                                                            "label": "Fukuyama congenital muscular dystrophy",
                                                            "link_status": true,
                                                            "children": []
                                                        },
                                                        {
                                                            "id": "DOID:0111230",
                                                            "label": "congenital muscular dystrophy-dystroglycanopathy type A11",
                                                            "link_status": true,
                                                            "children": []
                                                        },
                                                        {
                                                            "id": "DOID:0111231",
                                                            "label": "congenital muscular dystrophy-dystroglycanopathy type A8",
                                                            "link_status": true,
                                                            "children": []
                                                        },
                                                        {
                                                            "id": "DOID:0111232",
                                                            "label": "congenital muscular dystrophy-dystroglycanopathy type A9",
                                                            "link_status": true,
                                                            "children": []
                                                        },
                                                        {
                                                            "id": "DOID:0111233",
                                                            "label": "congenital muscular dystrophy-dystroglycanopathy type A14",
                                                            "link_status": true,
                                                            "children": []
                                                        },
                                                        {
                                                            "id": "DOID:0111234",
                                                            "label": "congenital muscular dystrophy-dystroglycanopathy type A7",
                                                            "link_status": true,
                                                            "children": []
                                                        },
                                                        {
                                                            "id": "DOID:0111235",
                                                            "label": "congenital muscular dystrophy-dystroglycanopathy type A12",
                                                            "link_status": true,
                                                            "children": []
                                                        },
                                                        {
                                                            "id": "DOID:0111236",
                                                            "label": "congenital muscular dystrophy-dystroglycanopathy type A3",
                                                            "link_status": true,
                                                            "children": []
                                                        },
                                                        {
                                                            "id": "DOID:0111237",
                                                            "label": "congenital muscular dystrophy-dystroglycanopathy type A1",
                                                            "link_status": true,
                                                            "children": []
                                                        },
                                                        {
                                                            "id": "DOID:0111238",
                                                            "label": "congenital muscular dystrophy-dystroglycanopathy type A13",
                                                            "link_status": true,
                                                            "children": []
                                                        },
                                                        {
                                                            "id": "DOID:0111239",
                                                            "label": "congenital muscular dystrophy-dystroglycanopathy type A10",
                                                            "link_status": true,
                                                            "children": []
                                                        },
                                                        {
                                                            "id": "DOID:0111240",
                                                            "label": "congenital muscular dystrophy-dystroglycanopathy type A2",
                                                            "link_status": true,
                                                            "children": []
                                                        },
                                                        {
                                                            "id": "DOID:0111241",
                                                            "label": "congenital muscular dystrophy-dystroglycanopathy type A5",
                                                            "link_status": true,
                                                            "children": []
                                                        },
                                                        {
                                                            "id": "DOID:0111242",
                                                            "label": "congenital muscular dystrophy-dystroglycanopathy type A6",
                                                            "link_status": true,
                                                            "children": []
                                                        }
                                                    ]
                                                },
                                                {
                                                    "id": "DOID:0112375",
                                                    "label": "muscular dystrophy-dystroglycanopathy type B",
                                                    "link_status": true,
                                                    "children": [
                                                        {
                                                            "id": "DOID:0050588",
                                                            "label": "muscular dystrophy-dystroglycanopathy type B1",
                                                            "link_status": true,
                                                            "children": []
                                                        },
                                                        {
                                                            "id": "DOID:0110635",
                                                            "label": "muscular dystrophy-dystroglycanopathy type B5",
                                                            "link_status": true,
                                                            "children": []
                                                        },
                                                        {
                                                            "id": "DOID:0110637",
                                                            "label": "muscular dystrophy-dystroglycanopathy type B6",
                                                            "link_status": true,
                                                            "children": []
                                                        },
                                                        {
                                                            "id": "DOID:0112376",
                                                            "label": "muscular dystrophy-dystroglycanopathy type B15",
                                                            "link_status": true,
                                                            "children": []
                                                        },
                                                        {
                                                            "id": "DOID:0112377",
                                                            "label": "muscular dystrophy-dystroglycanopathy type B14",
                                                            "link_status": true,
                                                            "children": []
                                                        },
                                                        {
                                                            "id": "DOID:0112378",
                                                            "label": "muscular dystrophy-dystroglycanopathy type B3",
                                                            "link_status": true,
                                                            "children": []
                                                        },
                                                        {
                                                            "id": "DOID:0112379",
                                                            "label": "muscular dystrophy-dystroglycanopathy type B4",
                                                            "link_status": true,
                                                            "children": []
                                                        },
                                                        {
                                                            "id": "DOID:0112380",
                                                            "label": "muscular dystrophy-dystroglycanopathy type B2",
                                                            "link_status": true,
                                                            "children": []
                                                        }
                                                    ]
                                                },
                                                {
                                                    "id": "DOID:0112381",
                                                    "label": "muscular dystrophy-dystroglycanopathy type C12",
                                                    "link_status": true,
                                                    "children": []
                                                },
                                                {
                                                    "id": "DOID:0112382",
                                                    "label": "muscular dystrophy-dystroglycanopathy type C8",
                                                    "link_status": true,
                                                    "children": []
                                                }
                                            ]
                                        }
                                    ]
                                },
                                {
                                    "id": "DOID:0060253",
                                    "label": "scapuloperoneal myopathy",
                                    "link_status": true,
                                    "children": []
                                },
                                {
                                    "id": "DOID:11719",
                                    "label": "oculopharyngeal muscular dystrophy",
                                    "link_status": true,
                                    "children": []
                                },
                                {
                                    "id": "DOID:11720",
                                    "label": "distal myopathy",
                                    "link_status": true,
                                    "children": [
                                        {
                                            "id": "DOID:0070197",
                                            "label": "distal myopathy 1",
                                            "link_status": true,
                                            "children": []
                                        },
                                        {
                                            "id": "DOID:0070198",
                                            "label": "Miyoshi muscular dystrophy",
                                            "link_status": true,
                                            "children": [
                                                {
                                                    "id": "DOID:0070199",
                                                    "label": "Miyoshi muscular dystrophy 1",
                                                    "link_status": true,
                                                    "children": []
                                                },
                                                {
                                                    "id": "DOID:0070201",
                                                    "label": "Miyoshi muscular dystrophy 3",
                                                    "link_status": true,
                                                    "children": []
                                                }
                                            ]
                                        },
                                        {
                                            "id": "DOID:0081363",
                                            "label": "distal myopathy with rimmed vacuoles",
                                            "link_status": true,
                                            "children": []
                                        },
                                        {
                                            "id": "DOID:0111078",
                                            "label": "tibial muscular dystrophy",
                                            "link_status": true,
                                            "children": []
                                        },
                                        {
                                            "id": "DOID:0111187",
                                            "label": "distal myopathy with anterior tibial onset",
                                            "link_status": true,
                                            "children": []
                                        },
                                        {
                                            "id": "DOID:0111189",
                                            "label": "distal myopathy 3",
                                            "link_status": true,
                                            "children": []
                                        },
                                        {
                                            "id": "DOID:0111190",
                                            "label": "distal myopathy 4",
                                            "link_status": true,
                                            "children": []
                                        },
                                        {
                                            "id": "DOID:0111191",
                                            "label": "distal myopathy Tateyama type",
                                            "link_status": true,
                                            "children": []
                                        }
                                    ]
                                },
                                {
                                    "id": "DOID:11723",
                                    "label": "Duchenne muscular dystrophy",
                                    "link_status": true,
                                    "children": []
                                },
                                {
                                    "id": "DOID:11724",
                                    "label": "limb-girdle muscular dystrophy",
                                    "link_status": true,
                                    "children": [
                                        {
                                            "id": "DOID:0110273",
                                            "label": "autosomal dominant limb-girdle muscular dystrophy",
                                            "link_status": true,
                                            "children": [
                                                {
                                                    "id": "DOID:0110304",
                                                    "label": "autosomal dominant limb-girdle muscular dystrophy type 2",
                                                    "link_status": true,
                                                    "children": []
                                                },
                                                {
                                                    "id": "DOID:0110305",
                                                    "label": "autosomal dominant limb-girdle muscular dystrophy type 1",
                                                    "link_status": true,
                                                    "children": []
                                                },
                                                {
                                                    "id": "DOID:0110306",
                                                    "label": "autosomal dominant limb-girdle muscular dystrophy type 3",
                                                    "link_status": true,
                                                    "children": []
                                                }
                                            ]
                                        },
                                        {
                                            "id": "DOID:0110274",
                                            "label": "autosomal recessive limb-girdle muscular dystrophy",
                                            "link_status": true,
                                            "children": [
                                                {
                                                    "id": "DOID:0061130",
                                                    "label": "autosomal recessive limb-girdle muscular dystrophy type 28",
                                                    "link_status": true,
                                                    "children": []
                                                },
                                                {
                                                    "id": "DOID:0061131",
                                                    "label": "autosomal recessive limb-girdle muscular dystrophy type 26",
                                                    "link_status": true,
                                                    "children": []
                                                },
                                                {
                                                    "id": "DOID:0061132",
                                                    "label": "autosomal recessive limb-girdle muscular dystrophy type 23",
                                                    "link_status": true,
                                                    "children": []
                                                },
                                                {
                                                    "id": "DOID:0061133",
                                                    "label": "autosomal recessive limb-girdle muscular dystrophy type 27",
                                                    "link_status": true,
                                                    "children": []
                                                },
                                                {
                                                    "id": "DOID:0061134",
                                                    "label": "autosomal recessive limb-girdle muscular dystrophy type 29",
                                                    "link_status": true,
                                                    "children": []
                                                },
                                                {
                                                    "id": "DOID:0080762",
                                                    "label": "autosomal recessive limb-girdle muscular dystrophy type 2Z",
                                                    "link_status": true,
                                                    "children": []
                                                },
                                                {
                                                    "id": "DOID:0110275",
                                                    "label": "autosomal recessive limb-girdle muscular dystrophy type 2A",
                                                    "link_status": true,
                                                    "children": []
                                                },
                                                {
                                                    "id": "DOID:0110276",
                                                    "label": "autosomal recessive limb-girdle muscular dystrophy type 2B",
                                                    "link_status": true,
                                                    "children": []
                                                },
                                                {
                                                    "id": "DOID:0110277",
                                                    "label": "autosomal recessive limb-girdle muscular dystrophy type 2C",
                                                    "link_status": true,
                                                    "children": []
                                                },
                                                {
                                                    "id": "DOID:0110278",
                                                    "label": "autosomal recessive limb-girdle muscular dystrophy type 2D",
                                                    "link_status": true,
                                                    "children": []
                                                },
                                                {
                                                    "id": "DOID:0110279",
                                                    "label": "autosomal recessive limb-girdle muscular dystrophy type 2E",
                                                    "link_status": true,
                                                    "children": []
                                                },
                                                {
                                                    "id": "DOID:0110280",
                                                    "label": "autosomal recessive limb-girdle muscular dystrophy type 2F",
                                                    "link_status": true,
                                                    "children": []
                                                },
                                                {
                                                    "id": "DOID:0110281",
                                                    "label": "autosomal recessive limb-girdle muscular dystrophy type 2G",
                                                    "link_status": true,
                                                    "children": []
                                                },
                                                {
                                                    "id": "DOID:0110282",
                                                    "label": "autosomal recessive limb-girdle muscular dystrophy type 2H",
                                                    "link_status": true,
                                                    "children": []
                                                },
                                                {
                                                    "id": "DOID:0110283",
                                                    "label": "autosomal recessive limb-girdle muscular dystrophy type 2J",
                                                    "link_status": true,
                                                    "children": []
                                                },
                                                {
                                                    "id": "DOID:0110284",
                                                    "label": "autosomal recessive limb-girdle muscular dystrophy type 2L",
                                                    "link_status": true,
                                                    "children": []
                                                },
                                                {
                                                    "id": "DOID:0110285",
                                                    "label": "autosomal recessive limb-girdle muscular dystrophy type 2Q",
                                                    "link_status": true,
                                                    "children": []
                                                },
                                                {
                                                    "id": "DOID:0110287",
                                                    "label": "autosomal recessive limb-girdle muscular dystrophy type 2S",
                                                    "link_status": true,
                                                    "children": []
                                                },
                                                {
                                                    "id": "DOID:0110288",
                                                    "label": "autosomal recessive limb-girdle muscular dystrophy type 2W",
                                                    "link_status": true,
                                                    "children": []
                                                },
                                                {
                                                    "id": "DOID:0110289",
                                                    "label": "autosomal recessive limb-girdle muscular dystrophy type 2Y",
                                                    "link_status": true,
                                                    "children": []
                                                },
                                                {
                                                    "id": "DOID:0110290",
                                                    "label": "autosomal recessive limb-girdle muscular dystrophy type 2X",
                                                    "link_status": true,
                                                    "children": []
                                                },
                                                {
                                                    "id": "DOID:0110292",
                                                    "label": "autosomal recessive limb-girdle muscular dystrophy type 2O",
                                                    "link_status": true,
                                                    "children": []
                                                },
                                                {
                                                    "id": "DOID:0110293",
                                                    "label": "autosomal recessive limb-girdle muscular dystrophy type 2P",
                                                    "link_status": true,
                                                    "children": []
                                                },
                                                {
                                                    "id": "DOID:0110294",
                                                    "label": "autosomal recessive limb-girdle muscular dystrophy type 2T",
                                                    "link_status": true,
                                                    "children": []
                                                },
                                                {
                                                    "id": "DOID:0110295",
                                                    "label": "autosomal recessive limb-girdle muscular dystrophy type 2U",
                                                    "link_status": true,
                                                    "children": []
                                                },
                                                {
                                                    "id": "DOID:0110296",
                                                    "label": "autosomal recessive limb-girdle muscular dystrophy type 2M",
                                                    "link_status": true,
                                                    "children": []
                                                },
                                                {
                                                    "id": "DOID:0110297",
                                                    "label": "autosomal recessive limb-girdle muscular dystrophy type 2K",
                                                    "link_status": true,
                                                    "children": []
                                                },
                                                {
                                                    "id": "DOID:0110298",
                                                    "label": "autosomal recessive limb-girdle muscular dystrophy type 2N",
                                                    "link_status": true,
                                                    "children": []
                                                },
                                                {
                                                    "id": "DOID:0110299",
                                                    "label": "autosomal recessive limb-girdle muscular dystrophy type 2I",
                                                    "link_status": true,
                                                    "children": []
                                                }
                                            ]
                                        }
                                    ]
                                },
                                {
                                    "id": "DOID:11726",
                                    "label": "Emery-Dreifuss muscular dystrophy",
                                    "link_status": true,
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                                        {
                                            "id": "DOID:0070246",
                                            "label": "X-linked Emery-Dreifuss muscular dystrophy 1",
                                            "link_status": true,
                                            "children": []
                                        },
                                        {
                                            "id": "DOID:0070247",
                                            "label": "autosomal dominant Emery-Dreifuss muscular dystrophy 2",
                                            "link_status": true,
                                            "children": []
                                        },
                                        {
                                            "id": "DOID:0070248",
                                            "label": "autosomal recessive Emery-Dreifuss muscular dystrophy 3",
                                            "link_status": true,
                                            "children": []
                                        },
                                        {
                                            "id": "DOID:0070249",
                                            "label": "autosomal dominant Emery-Dreifuss muscular dystrophy 4",
                                            "link_status": true,
                                            "children": []
                                        },
                                        {
                                            "id": "DOID:0070250",
                                            "label": "autosomal dominant Emery-Dreifuss muscular dystrophy 5",
                                            "link_status": true,
                                            "children": []
                                        },
                                        {
                                            "id": "DOID:0070251",
                                            "label": "X-linked Emery-Dreifuss muscular dystrophy 6",
                                            "link_status": true,
                                            "children": []
                                        },
                                        {
                                            "id": "DOID:0070252",
                                            "label": "autosomal dominant Emery-Dreifuss muscular dystrophy 7",
                                            "link_status": true,
                                            "children": []
                                        }
                                    ]
                                },
                                {
                                    "id": "DOID:11727",
                                    "label": "facioscapulohumeral muscular dystrophy",
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                                        {
                                            "id": "DOID:0060917",
                                            "label": "facioscapulohumeral muscular dystrophy 3",
                                            "link_status": true,
                                            "children": []
                                        },
                                        {
                                            "id": "DOID:0060918",
                                            "label": "facioscapulohumeral muscular dystrophy 4",
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                                            "children": []
                                        },
                                        {
                                            "id": "DOID:0111192",
                                            "label": "facioscapulohumeral muscular dystrophy 1",
                                            "link_status": true,
                                            "children": []
                                        },
                                        {
                                            "id": "DOID:0111193",
                                            "label": "facioscapulohumeral muscular dystrophy 2",
                                            "link_status": true,
                                            "children": []
                                        }
                                    ]
                                },
                                {
                                    "id": "DOID:450",
                                    "label": "myotonic disease",
                                    "link_status": true,
                                    "children": [
                                        {
                                            "id": "DOID:0050759",
                                            "label": "myotonic dystrophy type 2",
                                            "link_status": true,
                                            "children": []
                                        },
                                        {
                                            "id": "DOID:11722",
                                            "label": "myotonic dystrophy type 1",
                                            "link_status": true,
                                            "children": []
                                        }
                                    ]
                                },
                                {
                                    "id": "DOID:9883",
                                    "label": "Becker muscular dystrophy",
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                                    "children": []
                                }
                            ]
                        }
                    ]
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                {
                    "id": "DOID:8545",
                    "label": "malignant hyperthermia",
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                    "name": "Carnitine palmitoyltransferase II",
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                    "name": "zgc:101627",
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                    "name": "CT5254",
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                    "name": "Dmel\\CG1771",
                    "type": "synonym"
                },
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                    "name": "Dmel_CG1771",
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                },
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                    "name": "Integrin alpha PS1",
                    "type": "synonym"
                },
                {
                    "name": "ItgaPS1",
                    "type": "synonym"
                },
                {
                    "name": "Mew",
                    "type": "synonym"
                },
                {
                    "name": "PS1alpha",
                    "type": "synonym"
                },
                {
                    "name": "PS1",
                    "type": "synonym"
                },
                {
                    "name": "PSalpha1",
                    "type": "synonym"
                },
                {
                    "name": "aPS1",
                    "type": "synonym"
                },
                {
                    "name": "alpha integrin",
                    "type": "synonym"
                },
                {
                    "name": "alpha-PS1",
                    "type": "synonym"
                },
                {
                    "name": "alpha1Int",
                    "type": "synonym"
                },
                {
                    "name": "alphaPS1",
                    "type": "synonym"
                },
                {
                    "name": "alpha[[PS1]]",
                    "type": "synonym"
                },
                {
                    "name": "l(1)G0429",
                    "type": "synonym"
                },
                {
                    "name": "l(1)G0443",
                    "type": "synonym"
                },
                {
                    "name": "mew",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0080000",
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                }
            ]
        },
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                }
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                {
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                {
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                {
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                {
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                {
                    "name": "anon-EST:Posey235",
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            ]
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                    "name": "uncharacterized protein, isoform C",
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                {
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                {
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                {
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            ]
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                }
            ],
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                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Dmel\\CG10116",
                    "type": "recommended"
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                {
                    "name": "CG10116",
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                {
                    "name": "Dmel\\CG10116",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG10116",
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            ],
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                    "id": "0080000",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0080000"
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            ]
        },
        {
            "uniprot_canonical_ac": "Q9VRW5-1",
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                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
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                {
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                {
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                    "name": "CG7642-PA",
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                {
                    "name": "Protein rosy locus",
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                    "name": "XD",
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                    "name": "rosy",
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                {
                    "name": "ry-PA",
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                {
                    "name": "xanthine DH",
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                {
                    "name": "xanthine dehydrogenase",
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                    "name": "ry",
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                    "name": "Dmel\\CG7642",
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                {
                    "name": "Ry",
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                {
                    "name": "XOR",
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                {
                    "name": "Xdh/ry",
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                },
                {
                    "name": "Xdh",
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                {
                    "name": "ry",
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                {
                    "name": "xdh",
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                    "id": "0080000",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0080000"
                }
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            "uniprot_canonical_ac": "P43320-1",
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            "refseq_ac": "NP_000487",
            "glycoprotein": "no",
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                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Beta-crystallin B2",
                    "type": "recommended"
                },
                {
                    "name": "Beta-B2 crystallin",
                    "type": "synonym"
                },
                {
                    "name": "Beta-crystallin Bp",
                    "type": "synonym"
                },
                {
                    "name": "CTA-221G9.7",
                    "type": "synonym"
                },
                {
                    "name": "beta-B2 crystallin",
                    "type": "synonym"
                },
                {
                    "name": "beta-crystallin B2",
                    "type": "synonym"
                },
                {
                    "name": "beta-crystallin Bp",
                    "type": "synonym"
                },
                {
                    "name": "eye lens structural protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CRYBB2",
                    "type": "recommended"
                },
                {
                    "name": "CCA2",
                    "type": "synonym"
                },
                {
                    "name": "CRYB2A",
                    "type": "synonym"
                },
                {
                    "name": "CRYB2",
                    "type": "synonym"
                },
                {
                    "name": "CRYBB2",
                    "type": "synonym"
                },
                {
                    "name": "CTRCT3",
                    "type": "synonym"
                },
                {
                    "name": "D22S665",
                    "type": "synonym"
                }
            ],
            "record_id": "P43320-1",
            "evidence": [
                {
                    "id": "0080000",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080000"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q01658-1",
            "uniprot_ac": "Q01658",
            "uniprot_id": "NC2B_HUMAN",
            "refseq_ac": "NP_001929",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein Dr1",
                    "type": "recommended"
                },
                {
                    "name": "Down-regulator of transcription 1",
                    "type": "synonym"
                },
                {
                    "name": "NC2-beta",
                    "type": "synonym"
                },
                {
                    "name": "Negative cofactor 2-beta",
                    "type": "synonym"
                },
                {
                    "name": "TATA-binding protein-associated phosphoprotein",
                    "type": "synonym"
                },
                {
                    "name": "negative cofactor 2-beta",
                    "type": "synonym"
                },
                {
                    "name": "protein Dr1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DR1",
                    "type": "recommended"
                },
                {
                    "name": "DR1",
                    "type": "synonym"
                },
                {
                    "name": "NC2-BETA",
                    "type": "synonym"
                },
                {
                    "name": "NC2B",
                    "type": "synonym"
                },
                {
                    "name": "NC2",
                    "type": "synonym"
                },
                {
                    "name": "NCB2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q01658-1",
            "evidence": [
                {
                    "id": "0080000",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080000"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P23258-1",
            "uniprot_ac": "P23258",
            "uniprot_id": "TBG1_HUMAN",
            "refseq_ac": "NP_001061",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tubulin gamma-1 chain",
                    "type": "recommended"
                },
                {
                    "name": "GCP-1",
                    "type": "synonym"
                },
                {
                    "name": "Gamma-1-tubulin",
                    "type": "synonym"
                },
                {
                    "name": "Gamma-tubulin complex component 1",
                    "type": "synonym"
                },
                {
                    "name": "gamma-tubulin complex component 1",
                    "type": "synonym"
                },
                {
                    "name": "tubulin gamma-1 chain",
                    "type": "synonym"
                },
                {
                    "name": "tubulin, gamma polypeptide",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TUBG1",
                    "type": "recommended"
                },
                {
                    "name": "CDCBM4",
                    "type": "synonym"
                },
                {
                    "name": "GCP-1",
                    "type": "synonym"
                },
                {
                    "name": "TUBG1",
                    "type": "synonym"
                },
                {
                    "name": "TUBGCP1",
                    "type": "synonym"
                },
                {
                    "name": "TUBG",
                    "type": "synonym"
                }
            ],
            "record_id": "P23258-1",
            "evidence": [
                {
                    "id": "0080000",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080000"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P04035-1",
            "uniprot_ac": "P04035",
            "uniprot_id": "HMDH_HUMAN",
            "refseq_ac": "NP_000850",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "3-hydroxy-3-methylglutaryl-coenzyme A reductase",
                    "type": "recommended"
                },
                {
                    "name": "1.1.1.34",
                    "type": "synonym"
                },
                {
                    "name": "3-hydroxy-3-methylglutaryl CoA reductase (NADPH)",
                    "type": "synonym"
                },
                {
                    "name": "3-hydroxy-3-methylglutaryl-Coenzyme A reductase isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "3-hydroxy-3-methylglutaryl-Coenzyme A reductase",
                    "type": "synonym"
                },
                {
                    "name": "HMG-CoA reductase",
                    "type": "synonym"
                },
                {
                    "name": "hydroxymethylglutaryl-CoA reductase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HMGCR",
                    "type": "recommended"
                },
                {
                    "name": "HMGCR",
                    "type": "synonym"
                },
                {
                    "name": "LDLCQ3",
                    "type": "synonym"
                },
                {
                    "name": "LGMDR28",
                    "type": "synonym"
                },
                {
                    "name": "MYPLG",
                    "type": "synonym"
                }
            ],
            "record_id": "P04035-1",
            "evidence": [
                {
                    "id": "0080000",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080000"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P10909-1",
            "uniprot_ac": "P10909",
            "uniprot_id": "CLUS_HUMAN",
            "refseq_ac": "NP_001822",
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                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Clusterin",
                    "type": "recommended"
                },
                {
                    "name": "Aging-associated gene 4 protein",
                    "type": "synonym"
                },
                {
                    "name": "Apo-J",
                    "type": "synonym"
                },
                {
                    "name": "ApoJalpha",
                    "type": "synonym"
                },
                {
                    "name": "ApoJbeta",
                    "type": "synonym"
                },
                {
                    "name": "Apolipoprotein J",
                    "type": "synonym"
                },
                {
                    "name": "CLI",
                    "type": "synonym"
                },
                {
                    "name": "Complement cytolysis inhibitor a chain",
                    "type": "synonym"
                },
                {
                    "name": "Complement cytolysis inhibitor b chain",
                    "type": "synonym"
                },
                {
                    "name": "Complement cytolysis inhibitor",
                    "type": "synonym"
                },
                {
                    "name": "Complement-associated protein SP-40,40",
                    "type": "synonym"
                },
                {
                    "name": "Ku70-binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "NA1/NA2",
                    "type": "synonym"
                },
                {
                    "name": "SGP-2",
                    "type": "synonym"
                },
                {
                    "name": "SP-40,40 alpha-chain",
                    "type": "synonym"
                },
                {
                    "name": "SP-40,40 beta-chain",
                    "type": "synonym"
                },
                {
                    "name": "Sulfated glycoprotein 2",
                    "type": "synonym"
                },
                {
                    "name": "TRPM-2",
                    "type": "synonym"
                },
                {
                    "name": "Testosterone-repressed prostate message 2",
                    "type": "synonym"
                },
                {
                    "name": "aging-associated protein 4",
                    "type": "synonym"
                },
                {
                    "name": "apolipoprotein J",
                    "type": "synonym"
                },
                {
                    "name": "clusterin isoform 1 preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "complement cytolysis inhibitor",
                    "type": "synonym"
                },
                {
                    "name": "complement lysis inhibitor",
                    "type": "synonym"
                },
                {
                    "name": "complement-associated protein SP-40,40",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein",
                    "type": "synonym"
                },
                {
                    "name": "ku70-binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "sulfated glycoprotein 2",
                    "type": "synonym"
                },
                {
                    "name": "testosterone-repressed prostate message 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CLU",
                    "type": "recommended"
                },
                {
                    "name": "AAG4",
                    "type": "synonym"
                },
                {
                    "name": "APO-J",
                    "type": "synonym"
                },
                {
                    "name": "APOJ",
                    "type": "synonym"
                },
                {
                    "name": "CLI",
                    "type": "synonym"
                },
                {
                    "name": "CLU1",
                    "type": "synonym"
                },
                {
                    "name": "CLU2",
                    "type": "synonym"
                },
                {
                    "name": "CLU",
                    "type": "synonym"
                },
                {
                    "name": "KUB1",
                    "type": "synonym"
                },
                {
                    "name": "NA1/NA2",
                    "type": "synonym"
                },
                {
                    "name": "SGP-2",
                    "type": "synonym"
                },
                {
                    "name": "SGP2",
                    "type": "synonym"
                },
                {
                    "name": "SP-40",
                    "type": "synonym"
                },
                {
                    "name": "TRPM-2",
                    "type": "synonym"
                }
            ],
            "record_id": "P10909-1",
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                {
                    "id": "0080000",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080000"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P06858-1",
            "uniprot_ac": "P06858",
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                {
                    "name": "Homo sapiens",
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                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Lipoprotein lipase",
                    "type": "recommended"
                },
                {
                    "name": "3.1.1.32",
                    "type": "synonym"
                },
                {
                    "name": "3.1.1.34",
                    "type": "synonym"
                },
                {
                    "name": "LPL",
                    "type": "synonym"
                },
                {
                    "name": "Phospholipase A1",
                    "type": "synonym"
                },
                {
                    "name": "lipoprotein lipase precursor",
                    "type": "synonym"
                },
                {
                    "name": "phospholipase A1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LPL",
                    "type": "recommended"
                },
                {
                    "name": "HDLCQ11",
                    "type": "synonym"
                },
                {
                    "name": "LIPD",
                    "type": "synonym"
                },
                {
                    "name": "LPL",
                    "type": "synonym"
                }
            ],
            "record_id": "P06858-1",
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                {
                    "id": "0080000",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080000"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P30419-1",
            "uniprot_ac": "P30419",
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                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
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            ],
            "protein_names": [
                {
                    "name": "Glycylpeptide N-tetradecanoyltransferase 1",
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                },
                {
                    "name": "2.3.1.-",
                    "type": "synonym"
                },
                {
                    "name": "2.3.1.97",
                    "type": "synonym"
                },
                {
                    "name": "HsNMT1",
                    "type": "synonym"
                },
                {
                    "name": "Myristoyl-CoA:protein N-myristoyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "NMT 1",
                    "type": "synonym"
                },
                {
                    "name": "Peptide N-myristoyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "Protein-lysine myristoyltransferase NMT1",
                    "type": "synonym"
                },
                {
                    "name": "Type I N-myristoyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "alternative, short form NMT-S",
                    "type": "synonym"
                },
                {
                    "name": "glycylpeptide N-tetradecanoyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "long form, NMT-L",
                    "type": "synonym"
                },
                {
                    "name": "myristoyl-CoA:protein N-myristoyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "protein-lysine myristoyltransferase NMT1",
                    "type": "synonym"
                },
                {
                    "name": "type I N-myristoyltransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NMT1",
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                {
                    "name": "HsNMT1",
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                },
                {
                    "name": "NMT1",
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                },
                {
                    "name": "NMT",
                    "type": "synonym"
                }
            ],
            "record_id": "P30419-1",
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                {
                    "id": "0080000",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080000"
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            ]
        },
        {
            "uniprot_canonical_ac": "O60551-1",
            "uniprot_ac": "O60551",
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                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
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            ],
            "protein_names": [
                {
                    "name": "Glycylpeptide N-tetradecanoyltransferase 2",
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                {
                    "name": "2.3.1.-",
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                {
                    "name": "2.3.1.97",
                    "type": "synonym"
                },
                {
                    "name": "Myristoyl-CoA:protein N-myristoyltransferase 2",
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                },
                {
                    "name": "NMT 2",
                    "type": "synonym"
                },
                {
                    "name": "Peptide N-myristoyltransferase 2",
                    "type": "synonym"
                },
                {
                    "name": "Protein-lysine myristoyltransferase NMT2",
                    "type": "synonym"
                },
                {
                    "name": "Type II N-myristoyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "glycylpeptide N-tetradecanoyltransferase 2 isoform 2",
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                {
                    "name": "myristoyl-CoA:protein N-myristoyltransferase 2",
                    "type": "synonym"
                },
                {
                    "name": "peptide N-myristoyltransferase 2",
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                {
                    "name": "protein-lysine myristoyltransferase NMT2",
                    "type": "synonym"
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                {
                    "name": "type II N-myristoyltransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NMT2",
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                {
                    "name": "NMT2",
                    "type": "synonym"
                }
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            "record_id": "O60551-1",
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                {
                    "id": "0080000",
                    "database": "AGR",
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                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
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                {
                    "name": "Fatty acid synthase",
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                {
                    "name": "2.3.1.85",
                    "type": "synonym"
                },
                {
                    "name": "3-hydroxyacyl-[acyl-carrier-protein] dehydratase",
                    "type": "synonym"
                },
                {
                    "name": "3-oxoacyl-[acyl-carrier-protein] reductase",
                    "type": "synonym"
                },
                {
                    "name": "3-oxoacyl-[acyl-carrier-protein] synthase",
                    "type": "synonym"
                },
                {
                    "name": "Acyl-[acyl-carrier-protein] hydrolase",
                    "type": "synonym"
                },
                {
                    "name": "Enoyl-[acyl-carrier-protein] reductase",
                    "type": "synonym"
                },
                {
                    "name": "Type I fatty acid synthase",
                    "type": "synonym"
                },
                {
                    "name": "[Acyl-carrier-protein] S-acetyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "[Acyl-carrier-protein] S-malonyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "fatty acid synthase",
                    "type": "synonym"
                },
                {
                    "name": "short chain dehydrogenase/reductase family 27X, member 1",
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                {
                    "name": "type I fatty acid synthase",
                    "type": "synonym"
                }
            ],
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                    "name": "FASN",
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                {
                    "name": "FASN",
                    "type": "synonym"
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                {
                    "name": "FAS",
                    "type": "synonym"
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                {
                    "name": "OA-519",
                    "type": "synonym"
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                {
                    "name": "SDR27X1",
                    "type": "synonym"
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            "record_id": "P49327-1",
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                {
                    "id": "0080000",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080000"
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            ]
        },
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            "uniprot_canonical_ac": "O00763-1",
            "uniprot_ac": "O00763",
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                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Acetyl-CoA carboxylase 2",
                    "type": "recommended"
                },
                {
                    "name": "6.4.1.2",
                    "type": "synonym"
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                {
                    "name": "ACC-beta",
                    "type": "synonym"
                },
                {
                    "name": "acetyl-CoA carboxylase 2 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "acetyl-CoA carboxylase 2",
                    "type": "synonym"
                },
                {
                    "name": "acetyl-Coenzyme A carboxylase beta",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ACACB",
                    "type": "recommended"
                },
                {
                    "name": "ACACB",
                    "type": "synonym"
                },
                {
                    "name": "ACACbeta",
                    "type": "synonym"
                },
                {
                    "name": "ACC-beta",
                    "type": "synonym"
                },
                {
                    "name": "ACC2",
                    "type": "synonym"
                },
                {
                    "name": "ACCB",
                    "type": "synonym"
                },
                {
                    "name": "ACCbeta",
                    "type": "synonym"
                },
                {
                    "name": "HACC275",
                    "type": "synonym"
                }
            ],
            "record_id": "O00763-1",
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                {
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    ],
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    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080000"
}
