{
    "disease_id": "DOID:0090045",
    "recommended_name": {
        "id": "DOID:0090045",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0090045",
        "name": "glucose transporter type 1 deficiency syndrome 2",
        "description": "A dystonia characterized by paroxysmal exercise-induced dyskinesia involving transient abnormal involuntary movements in the exercised limbs that has_material_basis_in heterozygous mutation in the SLC2A1 gene on chromosome 1p34."
    },
    "synonyms": [
        {
            "id": "DOID:0090045",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090045",
            "name": "childhood-onset GLUT1 deficiency syndrome 2",
            "description": ""
        },
        {
            "id": "DOID:0090045",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090045",
            "name": "DYT18",
            "description": ""
        },
        {
            "id": "DOID:0090045",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090045",
            "name": "GLUT1 deficiency syndrome 2",
            "description": ""
        },
        {
            "id": "DOID:0090045",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090045",
            "name": "GLUT1DS2",
            "description": ""
        },
        {
            "id": "DOID:0090045",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090045",
            "name": "dystonia 18",
            "description": ""
        },
        {
            "id": "MONDO:0012805",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012805",
            "name": "childhood onset GLUT1 deficiency syndrome 2",
            "description": "A form of paroxysmal dyskinesia, characterized by painless attacks of dystonia of the extremities triggered by prolonged physical activities."
        },
        {
            "id": "MONDO:0012805",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012805",
            "name": "DYT18",
            "description": ""
        },
        {
            "id": "MONDO:0012805",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012805",
            "name": "GLUT1 deficiency syndrome 2, childhood onset",
            "description": ""
        },
        {
            "id": "MONDO:0012805",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012805",
            "name": "GLUT1 deficiency syndrome type 2",
            "description": ""
        },
        {
            "id": "MONDO:0012805",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012805",
            "name": "PED",
            "description": ""
        },
        {
            "id": "MONDO:0012805",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012805",
            "name": "PxMD-SLC2A1",
            "description": ""
        },
        {
            "id": "MONDO:0012805",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012805",
            "name": "childhood onset GLUT1 deficiency syndrome 2",
            "description": ""
        },
        {
            "id": "MONDO:0012805",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012805",
            "name": "childhood onset GLUT1 deficiency syndrome type 2",
            "description": ""
        },
        {
            "id": "MONDO:0012805",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012805",
            "name": "dystonia 18",
            "description": ""
        },
        {
            "id": "MONDO:0012805",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012805",
            "name": "paroxysmal exercise-induced dystonia",
            "description": ""
        },
        {
            "id": "MONDO:0012805",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012805",
            "name": "ped",
            "description": ""
        },
        {
            "id": "MONDO:0012805",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012805",
            "name": "DYT-SLC2A1",
            "description": ""
        },
        {
            "id": "MONDO:0012805",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012805",
            "name": "GLUT1 deficiency syndrome 2",
            "description": ""
        },
        {
            "id": "MONDO:0012805",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012805",
            "name": "GLUT1DS2",
            "description": ""
        },
        {
            "id": "MONDO:0012805",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012805",
            "name": "paroxysmal exercise-induced dyskinesia with or without epilepsy and/or hemolytic Anaemia",
            "description": ""
        },
        {
            "id": "MONDO:0012805",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012805",
            "name": "paroxysmal exertion-induced dystonia with or without epilepsy and/or hemolytic Anaemia",
            "description": ""
        },
        {
            "id": "MONDO:0012805",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012805",
            "name": "ped with or without epilepsy and/or hemolytic Anaemia",
            "description": ""
        },
        {
            "id": "MIM:612126",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/612126",
            "name": "GLUT1 deficiency syndrome 2",
            "description": "GLUT1 deficiency syndrome 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0090045"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0090045",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090045",
            "categories": []
        },
        {
            "id": "MONDO:0012805",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012805",
            "categories": []
        },
        {
            "id": "MIM:612126",
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            "url": "https://www.omim.org/entry/612126",
            "categories": []
        }
    ],
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        {
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            "uniprot_ac": "F1R0Q1",
            "uniprot_id": "F1R0Q1_DANRE",
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            "species": [
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                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                {
                    "name": "Solute carrier family 2, facilitated glucose transporter member 1",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 2, facilitated glucose transporter member 1",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "slc2a1b",
                    "type": "recommended"
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                {
                    "name": "slc2a1b",
                    "type": "synonym"
                }
            ],
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                    "id": "0090045",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0090045"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P17809-1",
            "uniprot_ac": "P17809",
            "uniprot_id": "GTR1_MOUSE",
            "refseq_ac": "NP_035530",
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                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Solute carrier family 2, facilitated glucose transporter member 1",
                    "type": "recommended"
                },
                {
                    "name": "GLUT-1",
                    "type": "synonym"
                },
                {
                    "name": "GT1",
                    "type": "synonym"
                },
                {
                    "name": "Glucose transporter type 1, erythrocyte/brain",
                    "type": "synonym"
                },
                {
                    "name": "glucose transporter type 1, erythrocyte/brain",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 2, facilitated glucose transporter member 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 2, member 1",
                    "type": "synonym"
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            ],
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                {
                    "name": "Slc2a1",
                    "type": "recommended"
                },
                {
                    "name": "GT1",
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                },
                {
                    "name": "Glut-1",
                    "type": "synonym"
                },
                {
                    "name": "Glut1",
                    "type": "synonym"
                },
                {
                    "name": "M100200",
                    "type": "synonym"
                },
                {
                    "name": "Rgsc200",
                    "type": "synonym"
                },
                {
                    "name": "Slc2a1",
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            ],
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                    "id": "0090045",
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            ]
        },
        {
            "uniprot_canonical_ac": "P11166-1",
            "uniprot_ac": "P11166",
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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": "Solute carrier family 2, facilitated glucose transporter member 1",
                    "type": "recommended"
                },
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                    "name": "GLUT-1",
                    "type": "synonym"
                },
                {
                    "name": "Glucose transporter type 1, erythrocyte/brain",
                    "type": "synonym"
                },
                {
                    "name": "HepG2 glucose transporter",
                    "type": "synonym"
                },
                {
                    "name": "choreoathetosis/spasticity, episodic (paroxysmal choreoathetosis/spasticity)",
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                },
                {
                    "name": "dystonia gene 18",
                    "type": "synonym"
                },
                {
                    "name": "dystonia gene 9",
                    "type": "synonym"
                },
                {
                    "name": "glucose transporter type 1, erythrocyte/brain",
                    "type": "synonym"
                },
                {
                    "name": "hepG2 glucose transporter",
                    "type": "synonym"
                },
                {
                    "name": "human T-cell leukemia virus (I and II) receptor",
                    "type": "synonym"
                },
                {
                    "name": "receptor for HTLV-1 and HTLV-2",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 2 (facilitated glucose transporter), member 1",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 2, facilitated glucose transporter member 1",
                    "type": "synonym"
                }
            ],
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                    "name": "SLC2A1",
                    "type": "recommended"
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                {
                    "name": "CSE",
                    "type": "synonym"
                },
                {
                    "name": "DYT17",
                    "type": "synonym"
                },
                {
                    "name": "DYT18",
                    "type": "synonym"
                },
                {
                    "name": "DYT9",
                    "type": "synonym"
                },
                {
                    "name": "EIG12",
                    "type": "synonym"
                },
                {
                    "name": "GLUT-1",
                    "type": "synonym"
                },
                {
                    "name": "GLUT1DS",
                    "type": "synonym"
                },
                {
                    "name": "GLUT1",
                    "type": "synonym"
                },
                {
                    "name": "GLUT",
                    "type": "synonym"
                },
                {
                    "name": "HTLVR",
                    "type": "synonym"
                },
                {
                    "name": "PED",
                    "type": "synonym"
                },
                {
                    "name": "SDCHCN",
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                {
                    "name": "SLC2A1",
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                }
            ],
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                    "id": "612126",
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                    "id": "0090045",
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                }
            ],
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                {
                    "name": "Vacuolar protein sorting-associated protein 73",
                    "type": "recommended"
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                {
                    "name": "putative sugar transporter",
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            ],
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                    "name": "VPS73",
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                    "name": "G3090",
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                    "id": "0090045",
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        {
            "uniprot_canonical_ac": "P38142-1",
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            "uniprot_id": "YB91_YEAST",
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                }
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                {
                    "name": "Probable metabolite transport protein YBR241C",
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                }
            ],
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                {
                    "name": "YBR1625",
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                    "id": "0090045",
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            ]
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        {
            "uniprot_canonical_ac": "P11167-1",
            "uniprot_ac": "P11167",
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                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Solute carrier family 2, facilitated glucose transporter member 1",
                    "type": "recommended"
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                    "name": "GLUT-1",
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                {
                    "name": "Glucose transporter type 1, erythrocyte/brain",
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                {
                    "name": "Solute carrier family 2 a 1 (facilitated glucose transporter) brain",
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                {
                    "name": "glucose transporter type 1, erythrocyte/brain",
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                    "name": "solute carrier family 2, facilitated glucose transporter member 1",
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            ],
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                    "name": "Slc2a1",
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                    "name": "GLUTB",
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                    "name": "GTG1",
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                },
                {
                    "name": "Glut1",
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                    "name": "Gtg3",
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                    "name": "RATGTG1",
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                    "id": "0090045",
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                }
            ]
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        {
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            "uniprot_ac": "Q8IRI6",
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            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
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                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
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                    "name": "Glucose transporter type 1",
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                    "name": "CG43946-PD",
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                {
                    "name": "Glut1-PD",
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                {
                    "name": "glucose transporter 1, isoform D",
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                },
                {
                    "name": "glucose transporter 1",
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                },
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                    "name": "lethal (3) S007412",
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                }
            ],
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                {
                    "name": "Glut1",
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                    "name": "0074/12",
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                },
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                    "name": "CG1086",
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                {
                    "name": "CG13908",
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                {
                    "name": "CG43946",
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                    "name": "DmGLUT1",
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                },
                {
                    "name": "DmGluT1",
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                    "name": "Dmel\\CG43946",
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                    "name": "Dmglut1",
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                    "name": "GLUT1",
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                    "name": "GLUT",
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                    "name": "GLU",
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                    "name": "Glt1",
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                {
                    "name": "Glu T1",
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                    "name": "Glut-1",
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                },
                {
                    "name": "Glut1",
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                    "name": "Glut",
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                    "name": "glut1",
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                {
                    "name": "l(3)61Ea",
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                {
                    "name": "l(3)L1H",
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                {
                    "name": "l(3)S007412",
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            ],
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                    "id": "0090045",
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                }
            ],
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                {
                    "name": "Four and a half LIM domains protein 3",
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                    "name": "FHL-3",
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                {
                    "name": "LIM-only protein FHL3",
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                },
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                    "name": "SLIM-2",
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                    "name": "Skeletal muscle LIM-protein 2",
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                },
                {
                    "name": "four and a half LIM domains protein 3 isoform 2",
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                {
                    "name": "skeletal muscle LIM-protein 2",
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                    "name": "SLIM2",
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                    "id": "0090045",
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                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0090045"
}