{
    "disease_id": "DOID:0080570",
    "recommended_name": {
        "id": "DOID:0080570",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080570",
        "name": "congenital disorder of glycosylation It",
        "description": "A congenital disorder of glycosylation I that is characterized by a wide range of clinical manifestations, most commonly presenting with bifid uvula with or without cleft palate at birth, associated with growth delay, hepatopathy with elevated aminotransferase serum levels, myopathy (including exercise-related fatigue, exercise intolerance, muscle weakness), intermittent hypoglycemia, and dilated cardiomyopathy and/or cardiac arrest, due to decreased phosphoglucomutase 1 enzyme activity and has_material_basis_in homozygous or compound heterozygous mutation in the PGM1 gene on chromosome 1p31."
    },
    "synonyms": [
        {
            "id": "DOID:0080570",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080570",
            "name": "congenital disorder of glycosylation 1t",
            "description": ""
        },
        {
            "id": "MONDO:0013968",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013968",
            "name": "PGM1-congenital disorder of glycosylation",
            "description": ""
        },
        {
            "id": "MONDO:0013968",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013968",
            "name": "CDG syndrome type It",
            "description": ""
        },
        {
            "id": "MONDO:0013968",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013968",
            "name": "CDG-It",
            "description": ""
        },
        {
            "id": "MONDO:0013968",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013968",
            "name": "CDG1T",
            "description": ""
        },
        {
            "id": "MONDO:0013968",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013968",
            "name": "PGM1-CDG",
            "description": ""
        },
        {
            "id": "MONDO:0013968",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013968",
            "name": "PGM1-congenital disorder of glycosylation",
            "description": ""
        },
        {
            "id": "MONDO:0013968",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013968",
            "name": "congenital disorder of glycosylation type 1t",
            "description": ""
        },
        {
            "id": "MONDO:0013968",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013968",
            "name": "congenital disorder of glycosylation type It",
            "description": ""
        },
        {
            "id": "MONDO:0013968",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013968",
            "name": "phosphoglucomutase-1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013968",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013968",
            "name": "GSD type 14",
            "description": ""
        },
        {
            "id": "MONDO:0013968",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013968",
            "name": "GSDXIV",
            "description": ""
        },
        {
            "id": "MONDO:0013968",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013968",
            "name": "congenital disorder of glycosylation, type It",
            "description": ""
        },
        {
            "id": "MONDO:0013968",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013968",
            "name": "glycogen storage disease due to phosphoglucomutase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013968",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013968",
            "name": "phosphoglucomutase deficiency type 1",
            "description": ""
        },
        {
            "id": "MONDO:0013968",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013968",
            "name": "type 14 glycogenosis",
            "description": ""
        },
        {
            "id": "MIM:614921",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614921",
            "name": "Congenital disorder of glycosylation 1T",
            "description": "Congenital disorder of glycosylation 1T"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080570"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080570",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080570",
            "categories": []
        },
        {
            "id": "MONDO:0013968",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013968",
            "categories": []
        },
        {
            "id": "MIM:614921",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614921",
            "categories": []
        }
    ],
    "proteins": [
        {
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            "uniprot_ac": "P36871",
            "uniprot_id": "PGM1_HUMAN",
            "refseq_ac": "NP_001166289",
            "glycoprotein": "yes",
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                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphoglucomutase-1",
                    "type": "recommended"
                },
                {
                    "name": "5.4.2.2",
                    "type": "synonym"
                },
                {
                    "name": "Glucose phosphomutase 1",
                    "type": "synonym"
                },
                {
                    "name": "PGM 1",
                    "type": "synonym"
                },
                {
                    "name": "glucose phosphomutase 1",
                    "type": "synonym"
                },
                {
                    "name": "phosphoglucomutase-1 isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PGM1",
                    "type": "recommended"
                },
                {
                    "name": "CDG1T",
                    "type": "synonym"
                },
                {
                    "name": "GSD14",
                    "type": "synonym"
                },
                {
                    "name": "PGM1",
                    "type": "synonym"
                }
            ],
            "record_id": "P36871-1",
            "evidence": [
                {
                    "id": "5236",
                    "database": "GlyCosmos",
                    "url": "https://glycosmos.org/glycogenes/show/5236#disease"
                },
                {
                    "id": "0013968",
                    "database": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0013968"
                },
                {
                    "id": "614921",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614921"
                },
                {
                    "id": "0080570",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080570"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "B0R0B3-1",
            "uniprot_ac": "B0R0B3",
            "uniprot_id": "PGM5_DANRE",
            "refseq_ac": "NP_001119868",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphoglucomutase-like protein 5",
                    "type": "recommended"
                },
                {
                    "name": "aciculin",
                    "type": "synonym"
                },
                {
                    "name": "phosphoglucomutase-like protein 5",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "pgm5",
                    "type": "recommended"
                },
                {
                    "name": "Aciculin",
                    "type": "synonym"
                },
                {
                    "name": "pgm5",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-91m11.4",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0080570",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080570"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9D0F9-1",
            "uniprot_ac": "Q9D0F9",
            "uniprot_id": "PGM1_MOUSE",
            "refseq_ac": "NP_082408",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphoglucomutase-1",
                    "type": "recommended"
                },
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                    "name": "5.4.2.2",
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                },
                {
                    "name": "Glucose phosphomutase 1",
                    "type": "synonym"
                },
                {
                    "name": "PGM 1",
                    "type": "synonym"
                },
                {
                    "name": "Phosphoglucomutase-2",
                    "type": "synonym"
                },
                {
                    "name": "glucose phosphomutase 1",
                    "type": "synonym"
                },
                {
                    "name": "phosphoglucomutase 2",
                    "type": "synonym"
                },
                {
                    "name": "phosphoglucomutase-1 isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pgm1",
                    "type": "recommended"
                },
                {
                    "name": "2610020G18Rik",
                    "type": "synonym"
                },
                {
                    "name": "Pgm-2",
                    "type": "synonym"
                },
                {
                    "name": "Pgm1a",
                    "type": "synonym"
                },
                {
                    "name": "Pgm1",
                    "type": "synonym"
                },
                {
                    "name": "Pgm2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9D0F9-1",
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                {
                    "id": "0080570",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080570"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8BZF8-1",
            "uniprot_ac": "Q8BZF8",
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            "refseq_ac": "NP_778178",
            "glycoprotein": "yes",
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                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphoglucomutase-like protein 5",
                    "type": "recommended"
                },
                {
                    "name": "phosphoglucomutase-like protein 5",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Pgm5",
                    "type": "recommended"
                },
                {
                    "name": "4833423B07",
                    "type": "synonym"
                },
                {
                    "name": "9530034F03Rik",
                    "type": "synonym"
                },
                {
                    "name": "Aciculin",
                    "type": "synonym"
                },
                {
                    "name": "D830025G17",
                    "type": "synonym"
                },
                {
                    "name": "Pgm5",
                    "type": "synonym"
                },
                {
                    "name": "aciculin",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BZF8-1",
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                {
                    "id": "0080570",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080570"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P37012-1",
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            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
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                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
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                    "name": "Phosphoglucomutase 2",
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                    "name": "5.4.2.2",
                    "type": "synonym"
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                {
                    "name": "D-glucose-1,6-diphosphate:D-glucose-1-phosphate phosphotransferase",
                    "type": "synonym"
                },
                {
                    "name": "Glucose phosphomutase 2",
                    "type": "synonym"
                },
                {
                    "name": "PGM 2",
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                    "name": "phosphoglucomutase PGM2",
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            ],
            "gene_names": [
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                    "name": "PGM2",
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                {
                    "name": "GA-5",
                    "type": "synonym"
                },
                {
                    "name": "GAL5",
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                },
                {
                    "name": "PGM2",
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                {
                    "name": "YM9718.04C",
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            ],
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                {
                    "id": "0080570",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0080570"
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            "uniprot_canonical_ac": "P33401-1",
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                }
            ],
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                {
                    "name": "Glucose phosphomutase 1",
                    "type": "synonym"
                },
                {
                    "name": "PGM 1",
                    "type": "synonym"
                },
                {
                    "name": "phosphoglucomutase PGM1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PGM1",
                    "type": "recommended"
                },
                {
                    "name": "PGM1",
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                }
            ],
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                    "id": "0080570",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0080570"
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            ]
        },
        {
            "uniprot_canonical_ac": "P38652-1",
            "uniprot_ac": "P38652",
            "uniprot_id": "PGM1_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
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                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                {
                    "name": "Glucose phosphomutase 1",
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                {
                    "name": "PGM 1",
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                }
            ],
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                    "name": "Pgm1",
                    "type": "recommended"
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            ],
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                {
                    "id": "0080570",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080570"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZVR9-1",
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                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                {
                    "name": "Phosphoglucomutase-like protein 5",
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            ],
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                    "name": "Pgm5",
                    "type": "recommended"
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                    "id": "0080570",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080570"
                }
            ]
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        {
            "uniprot_canonical_ac": "Q9VUY9-1",
            "uniprot_ac": "Q9VUY9",
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            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
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                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
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                    "name": "Phosphoglucomutase 1",
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                    "name": "CG5165-PA",
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                },
                {
                    "name": "Glucose phosphomutase",
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                },
                {
                    "name": "PGM",
                    "type": "synonym"
                },
                {
                    "name": "Pgm1-PA",
                    "type": "synonym"
                },
                {
                    "name": "phosphoglucomutase",
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                },
                {
                    "name": "phosphogluconate mutase",
                    "type": "synonym"
                },
                {
                    "name": "phosphoglucose mutase 1",
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                {
                    "name": "phosphoglucose mutase",
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                    "name": "Dmel\\CG5165",
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                    "name": "Pgm-1",
                    "type": "synonym"
                },
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                    "name": "Pgm1",
                    "type": "synonym"
                },
                {
                    "name": "Pgm",
                    "type": "synonym"
                },
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                    "name": "dPgm",
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            ],
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                    "id": "0080570",
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                }
            ]
        },
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                    "name": "Homo sapiens",
                    "taxid": 9606,
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                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "ETS-related transcription factor Elf-1",
                    "type": "recommended"
                },
                {
                    "name": "E74-like factor 1 (ets domain transcription factor)",
                    "type": "synonym"
                },
                {
                    "name": "E74-like factor 1",
                    "type": "synonym"
                },
                {
                    "name": "ETS-related transcription factor Elf-1 isoform b",
                    "type": "synonym"
                },
                {
                    "name": "ets-related transcription factor Elf-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
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                    "name": "ELF1",
                    "type": "recommended"
                },
                {
                    "name": "EFTUD1",
                    "type": "synonym"
                },
                {
                    "name": "ELF1",
                    "type": "synonym"
                },
                {
                    "name": "RIA1",
                    "type": "synonym"
                }
            ],
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            "evidence": [
                {
                    "id": "0080570",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080570"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q15124-1",
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                {
                    "name": "Homo sapiens",
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                    "reference_species": "Homo sapiens [9606]"
                }
            ],
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                    "name": "Phosphoglucomutase-like protein 5",
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                    "name": "Aciculin",
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                },
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                    "name": "PGM-RP",
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                },
                {
                    "name": "Phosphoglucomutase-related protein",
                    "type": "synonym"
                },
                {
                    "name": "aciculin",
                    "type": "synonym"
                },
                {
                    "name": "phosphoglucomutase-like protein 5",
                    "type": "synonym"
                },
                {
                    "name": "phosphoglucomutase-related protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PGM5",
                    "type": "recommended"
                },
                {
                    "name": "PGM5",
                    "type": "synonym"
                },
                {
                    "name": "PGMRP",
                    "type": "synonym"
                }
            ],
            "record_id": "Q15124-1",
            "evidence": [
                {
                    "id": "0080570",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080570"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080570"
}