{
    "disease_id": "DOID:0070560",
    "recommended_name": {
        "id": "DOID:0070560",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070560",
        "name": "glucose transporter type 1 deficiency syndrome",
        "description": "A glucose metabolism disease characterized by deficient glucose transport over the blood-brain barrier and reduced glucose availability in the central nervous system that has_material_basis_in mutation in the SLC2A1 gene on chromosome 1p34.2."
    },
    "synonyms": [
        {
            "id": "DOID:0070560",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070560",
            "name": "GLUT1DS",
            "description": ""
        },
        {
            "id": "MONDO:0011724",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011724",
            "name": "encephalopathy due to GLUT1 deficiency",
            "description": "Glucose transporter type 1 (GLUT1) deficiency syndrome is characterized by an encephalopathy marked by childhood epilepsy that is refractory to treatment, deceleration of cranial growth leading to microcephaly, psychomotor retardation, spasticity, ataxia, dysarthria and other paroxysmal neurological phenomena often occurring before meals. Symptoms appear between the age of 1 and 4 months, following a normal birth and gestation."
        },
        {
            "id": "MONDO:0011724",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011724",
            "name": "De Vivo disease",
            "description": ""
        },
        {
            "id": "MONDO:0011724",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011724",
            "name": "GLUT1 deficiency syndrome 1, infantile onset, severe",
            "description": ""
        },
        {
            "id": "MONDO:0011724",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011724",
            "name": "GLUT1 deficiency syndrome type 1",
            "description": ""
        },
        {
            "id": "MONDO:0011724",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011724",
            "name": "GLUT1-DS",
            "description": ""
        },
        {
            "id": "MONDO:0011724",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011724",
            "name": "Glucose Transporter Type 1 Deficiency Syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011724",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011724",
            "name": "encephalopathy due to GLUT1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011724",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011724",
            "name": "glucose transporter type 1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011724",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011724",
            "name": "glut-1 deficiency syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011724",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011724",
            "name": "G1D",
            "description": ""
        },
        {
            "id": "MONDO:0011724",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011724",
            "name": "GLUT1 DS",
            "description": ""
        },
        {
            "id": "MONDO:0011724",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011724",
            "name": "GLUT1 deficiency syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011724",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011724",
            "name": "GLUT1 deficiency syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0011724",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011724",
            "name": "GLUT1DS1",
            "description": ""
        },
        {
            "id": "MONDO:0011724",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011724",
            "name": "glucose TRANSPORT defect, blood-brain barrier GLUT1 deficiency syndrome 1, autosomal recessive, included",
            "description": ""
        },
        {
            "id": "MONDO:0011724",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011724",
            "name": "glucose transport defect, blood-brain barrier",
            "description": ""
        },
        {
            "id": "MONDO:0011724",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011724",
            "name": "glucose transporter Protein syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011724",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011724",
            "name": "glucose transporter protein syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011724",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011724",
            "name": "glucose transporter type 1 deficiency syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011724",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011724",
            "name": "glucose transporter type1 (glut-1) deficiency",
            "description": ""
        },
        {
            "id": "MIM:606777",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/606777",
            "name": "GLUT1 deficiency syndrome 1",
            "description": "GLUT1 deficiency syndrome 1"
        }
    ],
    "children": [
        {
            "id": "DOID:0070561",
            "label": "glucose transporter type 1 deficiency syndrome 1",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0090044",
            "label": "dystonia 9",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0090045",
            "label": "glucose transporter type 1 deficiency syndrome 2",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0090045",
        "DOID:0070561",
        "DOID:0070560",
        "DOID:0090044"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070560",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070560",
            "categories": []
        },
        {
            "id": "MONDO:0011724",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011724",
            "categories": []
        },
        {
            "id": "MIM:606777",
            "database": "MIM",
            "url": "https://www.omim.org/entry/606777",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1R0Q1-1",
            "uniprot_ac": "F1R0Q1",
            "uniprot_id": "F1R0Q1_DANRE",
            "refseq_ac": "XP_002662574",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Solute carrier family 2, facilitated glucose transporter member 1",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 2, facilitated glucose transporter member 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "slc2a1b",
                    "type": "recommended"
                },
                {
                    "name": "slc2a1b",
                    "type": "synonym"
                }
            ],
            "record_id": "F1R0Q1-1",
            "evidence": [
                {
                    "id": "0070560",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070560"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P17809-1",
            "uniprot_ac": "P17809",
            "uniprot_id": "GTR1_MOUSE",
            "refseq_ac": "NP_035530",
            "glycoprotein": "yes",
            "species": [
                {
                    "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"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc2a1",
                    "type": "recommended"
                },
                {
                    "name": "GT1",
                    "type": "synonym"
                },
                {
                    "name": "Glut-1",
                    "type": "synonym"
                },
                {
                    "name": "Glut1",
                    "type": "synonym"
                },
                {
                    "name": "M100200",
                    "type": "synonym"
                },
                {
                    "name": "Rgsc200",
                    "type": "synonym"
                },
                {
                    "name": "Slc2a1",
                    "type": "synonym"
                }
            ],
            "record_id": "P17809-1",
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                {
                    "id": "0070560",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070560"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P11166-1",
            "uniprot_ac": "P11166",
            "uniprot_id": "GTR1_HUMAN",
            "refseq_ac": "NP_006507",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Solute carrier family 2, facilitated glucose transporter member 1",
                    "type": "recommended"
                },
                {
                    "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)",
                    "type": "synonym"
                },
                {
                    "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"
                }
            ],
            "gene_names": [
                {
                    "name": "SLC2A1",
                    "type": "recommended"
                },
                {
                    "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",
                    "type": "synonym"
                },
                {
                    "name": "SLC2A1",
                    "type": "synonym"
                }
            ],
            "record_id": "P11166-1",
            "evidence": [
                {
                    "id": "606777",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/606777"
                },
                {
                    "id": "0070560",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070560"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P53142-1",
            "uniprot_ac": "P53142",
            "uniprot_id": "VPS73_YEAST",
            "refseq_ac": "NP_011411",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Vacuolar protein sorting-associated protein 73",
                    "type": "recommended"
                },
                {
                    "name": "putative sugar transporter",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "VPS73",
                    "type": "recommended"
                },
                {
                    "name": "G3090",
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                },
                {
                    "name": "VPS73",
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                {
                    "id": "0070560",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0070560"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P38142-1",
            "uniprot_ac": "P38142",
            "uniprot_id": "YB91_YEAST",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Probable metabolite transport protein YBR241C",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "YBR1625",
                    "type": "synonym"
                }
            ],
            "record_id": "P38142-1",
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                {
                    "id": "0070560",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070560"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P11167-1",
            "uniprot_ac": "P11167",
            "uniprot_id": "GTR1_RAT",
            "refseq_ac": "NP_620182",
            "glycoprotein": "yes",
            "species": [
                {
                    "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"
                },
                {
                    "name": "GLUT-1",
                    "type": "synonym"
                },
                {
                    "name": "Glucose transporter type 1, erythrocyte/brain",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 2 a 1 (facilitated glucose transporter) brain",
                    "type": "synonym"
                },
                {
                    "name": "glucose transporter type 1, erythrocyte/brain",
                    "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"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc2a1",
                    "type": "recommended"
                },
                {
                    "name": "GLUTB",
                    "type": "synonym"
                },
                {
                    "name": "GTG1",
                    "type": "synonym"
                },
                {
                    "name": "Glut1",
                    "type": "synonym"
                },
                {
                    "name": "Gtg3",
                    "type": "synonym"
                },
                {
                    "name": "RATGTG1",
                    "type": "synonym"
                },
                {
                    "name": "Slc2a1",
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                }
            ],
            "record_id": "P11167-1",
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                {
                    "id": "0070560",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070560"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8IRI6-5",
            "uniprot_ac": "Q8IRI6",
            "uniprot_id": "GTR1_DROME",
            "refseq_ac": "NP_001097467",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glucose transporter type 1",
                    "type": "recommended"
                },
                {
                    "name": "CG43946-PD",
                    "type": "synonym"
                },
                {
                    "name": "Glut1-PD",
                    "type": "synonym"
                },
                {
                    "name": "glucose transporter 1, isoform D",
                    "type": "synonym"
                },
                {
                    "name": "glucose transporter 1",
                    "type": "synonym"
                },
                {
                    "name": "lethal (3) S007412",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Glut1",
                    "type": "recommended"
                },
                {
                    "name": "0074/12",
                    "type": "synonym"
                },
                {
                    "name": "CG1086",
                    "type": "synonym"
                },
                {
                    "name": "CG13908",
                    "type": "synonym"
                },
                {
                    "name": "CG43946",
                    "type": "synonym"
                },
                {
                    "name": "DmGLUT1",
                    "type": "synonym"
                },
                {
                    "name": "DmGluT1",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG43946",
                    "type": "synonym"
                },
                {
                    "name": "Dmglut1",
                    "type": "synonym"
                },
                {
                    "name": "GLUT1",
                    "type": "synonym"
                },
                {
                    "name": "GLUT",
                    "type": "synonym"
                },
                {
                    "name": "GLU",
                    "type": "synonym"
                },
                {
                    "name": "Glt1",
                    "type": "synonym"
                },
                {
                    "name": "Glu T1",
                    "type": "synonym"
                },
                {
                    "name": "Glut-1",
                    "type": "synonym"
                },
                {
                    "name": "Glut1",
                    "type": "synonym"
                },
                {
                    "name": "Glut",
                    "type": "synonym"
                },
                {
                    "name": "glut1",
                    "type": "synonym"
                },
                {
                    "name": "l(3)61Ea",
                    "type": "synonym"
                },
                {
                    "name": "l(3)L1H",
                    "type": "synonym"
                },
                {
                    "name": "l(3)S007412",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8IRI6-5",
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                {
                    "id": "0070560",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070560"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q13643-1",
            "uniprot_ac": "Q13643",
            "uniprot_id": "FHL3_HUMAN",
            "refseq_ac": "NP_001230807",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Four and a half LIM domains protein 3",
                    "type": "recommended"
                },
                {
                    "name": "FHL-3",
                    "type": "synonym"
                },
                {
                    "name": "LIM-only protein FHL3",
                    "type": "synonym"
                },
                {
                    "name": "SLIM-2",
                    "type": "synonym"
                },
                {
                    "name": "Skeletal muscle LIM-protein 2",
                    "type": "synonym"
                },
                {
                    "name": "four and a half LIM domains protein 3 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "four and a half LIM domains protein 3",
                    "type": "synonym"
                },
                {
                    "name": "skeletal muscle LIM-protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FHL3",
                    "type": "recommended"
                },
                {
                    "name": "FHL3",
                    "type": "synonym"
                },
                {
                    "name": "SLIM2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q13643-1",
            "evidence": [
                {
                    "id": "0070560",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070560"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070560"
}